Canonical Allele Identifier: CA10642553
Gene: KCNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.4917823C>A
GRCh37 chr12:g.5026989C>A
gnomAD v2:
12:5026989 C / A
gnomAD v3:
12:4917823 C / A
gnomAD v4:
chr12-4917823-C-A
Joint Max Group AF 0.00019408 (NFE)
Genomes Max Group AF 0.00019434 (NFE)
ClinVar RCV:
RCV000306951
RCV000366237
ClinVar Variation:
309219
dbSNP:
549454829
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4917823C>A , CM000674.2:g.4917823C>A GRCh38
NC_000012.11:g.5026989C>A , CM000674.1:g.5026989C>A GRCh37
NC_000012.10:g.4897250C>A NCBI36
NG_011815.1:g.12917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.*4957C>A MANE Select ENSP00000371985.3:n.*4957C>A
ENST00000543874.3:n.143C>A
ENST00000639306.1:c.2221C>A ENSP00000492506.1:n.2221C>A
ENST00000639680.1:c.197C>A
ENST00000382545.3:c.*4957C>A ENSP00000371985.3:n.*4957C>A
ENST00000541095.1:n.105+7351C>A
ENST00000543874.2:n.134C>A
NM_000217.2:c.*4957C>A NP_000208.2:n.*4957C>A
NM_000217.3:c.*4957C>A MANE Select NP_000208.2:n.*4957C>A
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