ClinVar

NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13207394 (on Assembly GRCh38)
• Chr19: 13318208 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)

HGVS:

• NC_000019.10:g.13207394G>C
• NG_011569.1:g.304067C>G
• NM_000068.4:c.*652C>G
• NM_001127221.2:c.*652C>G
• NM_001127222.2:c.7440C>GMANE SELECT
• NM_001174080.2:c.*652C>G
• NM_023035.3:c.7458C>G
• NP_001120694.1:p.His2480Gln
• NP_075461.2:p.His2486Gln
• LRG_7:g.304067C>G
• NC_000019.9:g.13318208G>C
• NM_023035.2:c.7458C>G

This HGVS expression did not pass validation

Protein change:

H2480Q

Links:

dbSNP: rs539546830

NCBI 1000 Genomes Browser:

rs539546830

Molecular consequence:

• NM_000068.4:c.*652C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001127221.2:c.*652C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001174080.2:c.*652C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001127222.2:c.7440C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.7458C>G - missense variant - [Sequence Ontology: SO:0001583]