Canonical Allele Identifier: CA6399847
Gene: KCNA5 HGNC NCBI
COSMIC:
COSM940460
MyVariant.info:
GRCh38 chr12:g.5045476C>T
GRCh37 chr12:g.5154642C>T
gnomAD v2:
12:5154642 C / T
gnomAD v3:
12:5045476 C / T
gnomAD v4:
chr12-5045476-C-T
Joint Max Group AF 0.00023086 (AFR)
Genomes Max Group AF 0.00020344 (AFR)
Exomes Max Group AF 0.00018338 (AFR)
ClinVar RCV:
RCV000390364
ClinVar Variation:
309339
dbSNP:
147209278
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045476C>T , CM000674.2:g.5045476C>T GRCh38
NC_000012.11:g.5154642C>T , CM000674.1:g.5154642C>T GRCh37
NC_000012.10:g.5024903C>T NCBI36
NG_012198.1:g.6558C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1329C>T MANE Select ENSP00000252321.3:p.Ile443=
ENST00000252321.4:c.1329C>T ENSP00000252321.3:p.Ile443=
NM_002234.3:c.1329C>T NP_002225.2:p.Ile443=
NM_002234.4:c.1329C>T MANE Select NP_002225.2:p.Ile443=
Search 100 bp 5'
Search 100 bp 3'