Canonical Allele Identifier: CA478094317
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1143761
ClinVar RCV Id: RCV001482047
dbSNP Id: rs935997498
MyVariant Identifiers: chr12:g.5021147C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911981C>G , CM000674.2:g.4911981C>G GRCh38
NC_000012.11:g.5021147C>G , CM000674.1:g.5021147C>G GRCh37
NC_000012.10:g.4891408C>G NCBI36
NG_011815.1:g.7075C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.603C>G MANE Select ENSP00000371985.3:p.Thr201=
ENST00000543874.3:n.105+1509C>G
ENST00000639306.1:c.441C>G ENSP00000492506.1:p.Thr147=
ENST00000382545.3:c.603C>G ENSP00000371985.3:p.Thr201=
ENST00000541095.1:n.105+1509C>G
ENST00000543874.2:n.96+1509C>G
NM_000217.2:c.603C>G NP_000208.2:p.Thr201=
NM_000217.3:c.603C>G MANE Select NP_000208.2:p.Thr201=
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