Canonical Allele Identifier: CA6399867
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2826320
ClinVar RCV Id: RCV003628117
dbSNP Id: rs769367518
ExAC: 12:5154738 G / T
gnomAD v2: 12-5154738-G-T
gnomAD v4: 12-5045572-G-T
MyVariant Identifiers: chr12:g.5154738G>T (hg19) chr12:g.5045572G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045572G>T , CM000674.2:g.5045572G>T GRCh38
NC_000012.11:g.5154738G>T , CM000674.1:g.5154738G>T GRCh37
NC_000012.10:g.5024999G>T NCBI36
NG_012198.1:g.6654G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1425G>T MANE Select ENSP00000252321.3:p.Val475=
ENST00000252321.4:c.1425G>T ENSP00000252321.3:p.Val475=
NM_002234.3:c.1425G>T NP_002225.2:p.Val475=
NM_002234.4:c.1425G>T MANE Select NP_002225.2:p.Val475=
Search 100 bp 5'
Search 100 bp 3'