Canonical Allele Identifier: CA478094578
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1194572172
gnomAD v2: 12-5021810-A-G
gnomAD v4: 12-4912644-A-G
MyVariant Identifiers: chr12:g.5021810A>G (hg19) chr12:g.4912644A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912644A>G , CM000674.2:g.4912644A>G GRCh38
NC_000012.11:g.5021810A>G , CM000674.1:g.5021810A>G GRCh37
NC_000012.10:g.4892071A>G NCBI36
NG_011815.1:g.7738A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1266A>G MANE Select ENSP00000371985.3:p.Glu422=
ENST00000543874.3:n.105+2172A>G
ENST00000639306.1:c.1104A>G ENSP00000492506.1:p.Glu368=
ENST00000639680.1:c.76+378A>G
ENST00000382545.3:c.1266A>G ENSP00000371985.3:p.Glu422=
ENST00000541095.1:n.105+2172A>G
ENST00000543874.2:n.96+2172A>G
NM_000217.2:c.1266A>G NP_000208.2:p.Glu422=
NM_000217.3:c.1266A>G MANE Select NP_000208.2:p.Glu422=
Search 100 bp 5'
Search 100 bp 3'