Canonical Allele Identifier: CA383454954
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1947354982
gnomAD v3: 12-4911994-G-T
gnomAD v4: 12-4911994-G-T
MyVariant Identifiers: chr12:g.5021160G>T (hg19) chr12:g.4911994G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911994G>T , CM000674.2:g.4911994G>T GRCh38
NC_000012.11:g.5021160G>T , CM000674.1:g.5021160G>T GRCh37
NC_000012.10:g.4891421G>T NCBI36
NG_011815.1:g.7088G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.616G>T MANE Select ENSP00000371985.3:p.Asp206Tyr
ENST00000543874.3:n.105+1522G>T
ENST00000639306.1:c.454G>T ENSP00000492506.1:p.Asp152Tyr
ENST00000382545.3:c.616G>T ENSP00000371985.3:p.Asp206Tyr
ENST00000541095.1:n.105+1522G>T
ENST00000543874.2:n.96+1522G>T
NM_000217.2:c.616G>T NP_000208.2:p.Asp206Tyr
NM_000217.3:c.616G>T MANE Select NP_000208.2:p.Asp206Tyr
Search 100 bp 5'
Search 100 bp 3'