Canonical Allele Identifier: CA383456180
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021705C>G (hg19) chr12:g.4912539C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912539C>G , CM000674.2:g.4912539C>G GRCh38
NC_000012.11:g.5021705C>G , CM000674.1:g.5021705C>G GRCh37
NC_000012.10:g.4891966C>G NCBI36
NG_011815.1:g.7633C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1161C>G MANE Select ENSP00000371985.3:p.Ile387Met
ENST00000543874.3:n.105+2067C>G
ENST00000639306.1:c.999C>G ENSP00000492506.1:p.Ile333Met
ENST00000639680.1:c.76+273C>G
ENST00000382545.3:c.1161C>G ENSP00000371985.3:p.Ile387Met
ENST00000541095.1:n.105+2067C>G
ENST00000543874.2:n.96+2067C>G
NM_000217.2:c.1161C>G NP_000208.2:p.Ile387Met
NM_000217.3:c.1161C>G MANE Select NP_000208.2:p.Ile387Met
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