Canonical Allele Identifier: CA478094323
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v3: 12-4912149-A-C
gnomAD v4: 12-4912149-A-C
MyVariant Identifiers: chr12:g.5021315A>C (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.771A>C MANE Select ENSP00000371985.3:p.Ile257=
ENST00000543874.3:n.105+1677A>C
ENST00000639306.1:c.609A>C ENSP00000492506.1:p.Ile203=
ENST00000382545.3:c.771A>C ENSP00000371985.3:p.Ile257=
ENST00000541095.1:n.105+1677A>C
ENST00000543874.2:n.96+1677A>C
NM_000217.2:c.771A>C NP_000208.2:p.Ile257=
NM_000217.3:c.771A>C MANE Select NP_000208.2:p.Ile257=
Search 100 bp 5'
Search 100 bp 3'