Canonical Allele Identifier: CA478094969
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs1475577782
gnomAD v3: 12-4912587-C-G
gnomAD v4: 12-4912587-C-G
MyVariant Identifiers: chr12:g.5021753C>G (hg19) chr12:g.4912587C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912587C>G , CM000674.2:g.4912587C>G GRCh38
NC_000012.11:g.5021753C>G , CM000674.1:g.5021753C>G GRCh37
NC_000012.10:g.4892014C>G NCBI36
NG_011815.1:g.7681C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1209C>G MANE Select ENSP00000371985.3:p.Pro403=
ENST00000543874.3:n.105+2115C>G
ENST00000639306.1:c.1047C>G ENSP00000492506.1:p.Pro349=
ENST00000639680.1:c.76+321C>G
ENST00000382545.3:c.1209C>G ENSP00000371985.3:p.Pro403=
ENST00000541095.1:n.105+2115C>G
ENST00000543874.2:n.96+2115C>G
NM_000217.2:c.1209C>G NP_000208.2:p.Pro403=
NM_000217.3:c.1209C>G MANE Select NP_000208.2:p.Pro403=
Search 100 bp 5'
Search 100 bp 3'