Canonical Allele Identifier: CA6399947
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs771488872
gnomAD v2: 12-5155093-G-T
gnomAD v4: 12-5045927-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045927G>T , CM000674.2:g.5045927G>T GRCh38
NC_000012.11:g.5155093G>T , CM000674.1:g.5155093G>T GRCh37
NC_000012.10:g.5025354G>T NCBI36
NG_012198.1:g.7009G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1780G>T MANE Select ENSP00000252321.3:p.Val594Leu
ENST00000252321.4:c.1780G>T ENSP00000252321.3:p.Val594Leu
NM_002234.3:c.1780G>T NP_002225.2:p.Val594Leu
NM_002234.4:c.1780G>T MANE Select NP_002225.2:p.Val594Leu