Canonical Allele Identifier: CA236715
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 191460
dbSNP Id: rs77281462
gnomAD v2: 12-5153947-C-T
gnomAD v3: 12-5044781-C-T
gnomAD v4: 12-5044781-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044781C>T , CM000674.2:g.5044781C>T GRCh38
NC_000012.11:g.5153947C>T , CM000674.1:g.5153947C>T GRCh37
NC_000012.10:g.5024208C>T NCBI36
NG_012198.1:g.5863C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.634C>T MANE Select ENSP00000252321.3:p.Arg212Cys
ENST00000252321.4:c.634C>T ENSP00000252321.3:p.Arg212Cys
NM_002234.3:c.634C>T NP_002225.2:p.Arg212Cys
NM_002234.4:c.634C>T MANE Select NP_002225.2:p.Arg212Cys