Canonical Allele Identifier: CA6399662
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs760368994
gnomAD v2: 12-5153896-G-T
gnomAD v4: 12-5044730-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044730G>T , CM000674.2:g.5044730G>T GRCh38
NC_000012.11:g.5153896G>T , CM000674.1:g.5153896G>T GRCh37
NC_000012.10:g.5024157G>T NCBI36
NG_012198.1:g.5812G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.583G>T MANE Select ENSP00000252321.3:p.Val195Leu
ENST00000252321.4:c.583G>T ENSP00000252321.3:p.Val195Leu
NM_002234.3:c.583G>T NP_002225.2:p.Val195Leu
NM_002234.4:c.583G>T MANE Select NP_002225.2:p.Val195Leu