Canonical Allele Identifier: CA236717
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 191461
dbSNP Id: rs371521698
gnomAD v2: 12-5154014-G-T
gnomAD v3: 12-5044848-G-T
gnomAD v4: 12-5044848-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044848G>T , CM000674.2:g.5044848G>T GRCh38
NC_000012.11:g.5154014G>T , CM000674.1:g.5154014G>T GRCh37
NC_000012.10:g.5024275G>T NCBI36
NG_012198.1:g.5930G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.701G>T MANE Select ENSP00000252321.3:p.Arg234Leu
ENST00000252321.4:c.701G>T ENSP00000252321.3:p.Arg234Leu
NM_002234.3:c.701G>T NP_002225.2:p.Arg234Leu
NM_002234.4:c.701G>T MANE Select NP_002225.2:p.Arg234Leu