Canonical Allele Identifier: CA478094324
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2147614
ClinVar RCV Id: RCV003060985
dbSNP Id: rs1275823583
gnomAD v2: 12-5021315-A-T
gnomAD v3: 12-4912149-A-T
gnomAD v4: 12-4912149-A-T
MyVariant Identifiers: chr12:g.5021315A>T (hg19) chr12:g.4912149A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912149A>T , CM000674.2:g.4912149A>T GRCh38
NC_000012.11:g.5021315A>T , CM000674.1:g.5021315A>T GRCh37
NC_000012.10:g.4891576A>T NCBI36
NG_011815.1:g.7243A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.771A>T MANE Select ENSP00000371985.3:p.Ile257=
ENST00000543874.3:n.105+1677A>T
ENST00000639306.1:c.609A>T ENSP00000492506.1:p.Ile203=
ENST00000382545.3:c.771A>T ENSP00000371985.3:p.Ile257=
ENST00000541095.1:n.105+1677A>T
ENST00000543874.2:n.96+1677A>T
NM_000217.2:c.771A>T NP_000208.2:p.Ile257=
NM_000217.3:c.771A>T MANE Select NP_000208.2:p.Ile257=
Search 100 bp 5'
Search 100 bp 3'