Canonical Allele Identifier: CA6399374
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs756244699
ExAC: 12:5020910 G / A
gnomAD v2: 12-5020910-G-A
gnomAD v4: 12-4911744-G-A
MyVariant Identifiers: chr12:g.5020910G>A (hg19) chr12:g.4911744G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911744G>A , CM000674.2:g.4911744G>A GRCh38
NC_000012.11:g.5020910G>A , CM000674.1:g.5020910G>A GRCh37
NC_000012.10:g.4891171G>A NCBI36
NG_011815.1:g.6838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.366G>A MANE Select ENSP00000371985.3:p.Leu122=
ENST00000543874.3:n.105+1272G>A
ENST00000639306.1:c.204G>A ENSP00000492506.1:p.Leu68=
ENST00000382545.3:c.366G>A ENSP00000371985.3:p.Leu122=
ENST00000541095.1:n.105+1272G>A
ENST00000543874.2:n.96+1272G>A
NM_000217.2:c.366G>A NP_000208.2:p.Leu122=
NM_000217.3:c.366G>A MANE Select NP_000208.2:p.Leu122=
Search 100 bp 5'
Search 100 bp 3'