Canonical Allele Identifier: CA6399476
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1658433
ClinVar RCV Id: RCV002174095
dbSNP Id: rs142055425
ExAC: 12:5021768 G / A
gnomAD v2: 12-5021768-G-A
gnomAD v3: 12-4912602-G-A
gnomAD v4: 12-4912602-G-A
MyVariant Identifiers: chr12:g.5021768G>A (hg19) chr12:g.4912602G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912602G>A , CM000674.2:g.4912602G>A GRCh38
NC_000012.11:g.5021768G>A , CM000674.1:g.5021768G>A GRCh37
NC_000012.10:g.4892029G>A NCBI36
NG_011815.1:g.7696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1224G>A MANE Select ENSP00000371985.3:p.Val408=
ENST00000543874.3:n.105+2130G>A
ENST00000639306.1:c.1062G>A ENSP00000492506.1:p.Val354=
ENST00000639680.1:c.76+336G>A
ENST00000382545.3:c.1224G>A ENSP00000371985.3:p.Val408=
ENST00000541095.1:n.105+2130G>A
ENST00000543874.2:n.96+2130G>A
NM_000217.2:c.1224G>A NP_000208.2:p.Val408=
NM_000217.3:c.1224G>A MANE Select NP_000208.2:p.Val408=
Search 100 bp 5'
Search 100 bp 3'