Canonical Allele Identifier: CA383455550
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1366571577
gnomAD v2: 12-5021427-C-G
gnomAD v4: 12-4912261-C-G
MyVariant Identifiers: chr12:g.5021427C>G (hg19) chr12:g.4912261C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912261C>G , CM000674.2:g.4912261C>G GRCh38
NC_000012.11:g.5021427C>G , CM000674.1:g.5021427C>G GRCh37
NC_000012.10:g.4891688C>G NCBI36
NG_011815.1:g.7355C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.883C>G MANE Select ENSP00000371985.3:p.Arg295Gly
ENST00000543874.3:n.105+1789C>G
ENST00000639306.1:c.721C>G ENSP00000492506.1:p.Arg241Gly
ENST00000639680.1:c.71C>G
ENST00000382545.3:c.883C>G ENSP00000371985.3:p.Arg295Gly
ENST00000541095.1:n.105+1789C>G
ENST00000543874.2:n.96+1789C>G
NM_000217.2:c.883C>G NP_000208.2:p.Arg295Gly
NM_000217.3:c.883C>G MANE Select NP_000208.2:p.Arg295Gly
Search 100 bp 5'
Search 100 bp 3'