Canonical Allele Identifier: CA6399450
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs774438747
ExAC: 12:5021520 C / T
gnomAD v2: 12-5021520-C-T
gnomAD v4: 12-4912354-C-T
MyVariant Identifiers: chr12:g.5021520C>T (hg19) chr12:g.4912354C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912354C>T , CM000674.2:g.4912354C>T GRCh38
NC_000012.11:g.5021520C>T , CM000674.1:g.5021520C>T GRCh37
NC_000012.10:g.4891781C>T NCBI36
NG_011815.1:g.7448C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.976C>T MANE Select ENSP00000371985.3:p.Leu326=
ENST00000543874.3:n.105+1882C>T
ENST00000639306.1:c.814C>T ENSP00000492506.1:p.Leu272=
ENST00000639680.1:c.76+88C>T
ENST00000382545.3:c.976C>T ENSP00000371985.3:p.Leu326=
ENST00000541095.1:n.105+1882C>T
ENST00000543874.2:n.96+1882C>T
NM_000217.2:c.976C>T NP_000208.2:p.Leu326=
NM_000217.3:c.976C>T MANE Select NP_000208.2:p.Leu326=
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