Canonical Allele Identifier: CA478094722
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4912356-A-G
MyVariant Identifiers: chr12:g.5021522A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912356A>G , CM000674.2:g.4912356A>G GRCh38
NC_000012.11:g.5021522A>G , CM000674.1:g.5021522A>G GRCh37
NC_000012.10:g.4891783A>G NCBI36
NG_011815.1:g.7450A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.978A>G MANE Select ENSP00000371985.3:p.Leu326=
ENST00000543874.3:n.105+1884A>G
ENST00000639306.1:c.816A>G ENSP00000492506.1:p.Leu272=
ENST00000639680.1:c.76+90A>G
ENST00000382545.3:c.978A>G ENSP00000371985.3:p.Leu326=
ENST00000541095.1:n.105+1884A>G
ENST00000543874.2:n.96+1884A>G
NM_000217.2:c.978A>G NP_000208.2:p.Leu326=
NM_000217.3:c.978A>G MANE Select NP_000208.2:p.Leu326=
Search 100 bp 5'
Search 100 bp 3'