Canonical Allele Identifier: CA6399927
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 374033
ClinVar RCV Id: RCV001662370
dbSNP Id: rs71581017
ExAC: 12:5155016 G / T
gnomAD v2: 12-5155016-G-T
gnomAD v3: 12-5045850-G-T
gnomAD v4: 12-5045850-G-T
COSMIC: COSM3954873
MyVariant Identifiers: chr12:g.5155016G>T (hg19) chr12:g.5045850G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045850G>T , CM000674.2:g.5045850G>T GRCh38
NC_000012.11:g.5155016G>T , CM000674.1:g.5155016G>T GRCh37
NC_000012.10:g.5025277G>T NCBI36
NG_012198.1:g.6932G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.1703G>T MANE Select ENSP00000252321.3:p.Gly568Val
ENST00000252321.4:c.1703G>T ENSP00000252321.3:p.Gly568Val
NM_002234.3:c.1703G>T NP_002225.2:p.Gly568Val
NM_002234.4:c.1703G>T MANE Select NP_002225.2:p.Gly568Val
Search 100 bp 5'
Search 100 bp 3'