ClinVar

NM_000037.4(ANK1):c.2898C>T (p.Ala966=)

Gene:

ANK1:ankyrin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p11.21

Genomic location:

• Chr8: 41696425 (on Assembly GRCh38)
• Chr8: 41553943 (on Assembly GRCh37)

Preferred name:

NM_000037.4(ANK1):c.2898C>T (p.Ala966=)

HGVS:

• NC_000008.11:g.41696425G>A
• NG_012820.2:g.205338C>T
• NM_000037.4:c.2898C>TMANE SELECT
• NM_001142446.2:c.3021C>T
• NM_020475.3:c.2898C>T
• NM_020476.2:c.2898C>T
• NM_020476.3:c.2898C>T
• NM_020477.3:c.2898C>T
• NP_000028.3:p.Ala966=
• NP_001135918.1:p.Ala1007=
• NP_065208.2:p.Ala966=
• NP_065209.2:p.Ala966=
• NP_065210.2:p.Ala966=
• NC_000008.10:g.41553943G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000037.4:c.2898C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142446.2:c.3021C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020475.3:c.2898C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020476.3:c.2898C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020477.3:c.2898C>T - synonymous variant - [Sequence Ontology: SO:0001819]