Canonical Allele Identifier: CA10637787
Gene: KCNA5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5043981C>T
GRCh37 chr12:g.5153147C>T
gnomAD v2:
12:5153147 C / T
gnomAD v3:
12:5043981 C / T
gnomAD v4:
chr12-5043981-C-T
Joint Max Group AF 0.56167274 (EAS)
Genomes Max Group AF 0.59890753 (EAS)
Exomes Max Group AF 0.55321627 (EAS)
ClinVar RCV:
RCV000364132
RCV001534965
ClinVar Variation:
309329
dbSNP:
3741930
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5043981C>T , CM000674.2:g.5043981C>T GRCh38
NC_000012.11:g.5153147C>T , CM000674.1:g.5153147C>T GRCh37
NC_000012.10:g.5023408C>T NCBI36
NG_012198.1:g.5063C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.-167C>T MANE Select ENSP00000252321.3:n.-167C>T
NM_002234.3:c.-167C>T NP_002225.2:n.-167C>T
NM_002234.4:c.-167C>T MANE Select NP_002225.2:n.-167C>T
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