Canonical Allele Identifier: CA10642489

Gene: KCNA1

Linked Data

• ClinVar Variation Id: 309139
• ClinVar RCV Id: RCV000307305 ; RCV000390912
• dbSNP Id: rs534276633
• gnomAD v3: 12-4911222-T-A
• gnomAD v4: 12-4911222-T-A
• MyVariant Identifiers: chr12:g.5020388T>A (hg19) ; chr12:g.4911222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4911222T>A , CM000674.2:g.4911222T>A	GRCh38
NC_000012.11:g.5020388T>A , CM000674.1:g.5020388T>A	GRCh37
NC_000012.10:g.4890649T>A	NCBI36
NG_011815.1:g.6316T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.-157T>A MANE Select	ENSP00000371985.3:n.-157T>A
ENST00000543874.3:n.105+750T>A
ENST00000382545.3:c.-157T>A	ENSP00000371985.3:n.-157T>A
ENST00000541095.1:n.105+750T>A
ENST00000543874.2:n.96+750T>A
NM_000217.2:c.-157T>A	NP_000208.2:n.-157T>A
NM_000217.3:c.-157T>A MANE Select	NP_000208.2:n.-157T>A