Canonical Allele Identifier: CA383456312
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1994585
ClinVar RCV Id: RCV002791241
gnomAD v4: 12-4912607-A-C
MyVariant Identifiers: chr12:g.5021773A>C (hg19) chr12:g.4912607A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912607A>C , CM000674.2:g.4912607A>C GRCh38
NC_000012.11:g.5021773A>C , CM000674.1:g.5021773A>C GRCh37
NC_000012.10:g.4892034A>C NCBI36
NG_011815.1:g.7701A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1229A>C MANE Select ENSP00000371985.3:p.Asn410Thr
ENST00000543874.3:n.105+2135A>C
ENST00000639306.1:c.1067A>C ENSP00000492506.1:p.Asn356Thr
ENST00000639680.1:c.76+341A>C
ENST00000382545.3:c.1229A>C ENSP00000371985.3:p.Asn410Thr
ENST00000541095.1:n.105+2135A>C
ENST00000543874.2:n.96+2135A>C
NM_000217.2:c.1229A>C NP_000208.2:p.Asn410Thr
NM_000217.3:c.1229A>C MANE Select NP_000208.2:p.Asn410Thr
Search 100 bp 5'
Search 100 bp 3'