Canonical Allele Identifier: CA383454795
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1464714743
gnomAD v3: 12-4911922-G-T
gnomAD v4: 12-4911922-G-T
MyVariant Identifiers: chr12:g.5021088G>T (hg19) chr12:g.4911922G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911922G>T , CM000674.2:g.4911922G>T GRCh38
NC_000012.11:g.5021088G>T , CM000674.1:g.5021088G>T GRCh37
NC_000012.10:g.4891349G>T NCBI36
NG_011815.1:g.7016G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.544G>T MANE Select ENSP00000371985.3:p.Val182Phe
ENST00000543874.3:n.105+1450G>T
ENST00000639306.1:c.382G>T ENSP00000492506.1:p.Val128Phe
ENST00000382545.3:c.544G>T ENSP00000371985.3:p.Val182Phe
ENST00000541095.1:n.105+1450G>T
ENST00000543874.2:n.96+1450G>T
NM_000217.2:c.544G>T NP_000208.2:p.Val182Phe
NM_000217.3:c.544G>T MANE Select NP_000208.2:p.Val182Phe
Search 100 bp 5'
Search 100 bp 3'