Canonical Allele Identifier: CA6399666
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506278
ClinVar RCV Id: RCV003236509
dbSNP Id: rs764783669
ExAC: 12:5153914 C / T
gnomAD v2: 12-5153914-C-T
gnomAD v4: 12-5044748-C-T
MyVariant Identifiers: chr12:g.5153914C>T (hg19) chr12:g.5044748C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044748C>T , CM000674.2:g.5044748C>T GRCh38
NC_000012.11:g.5153914C>T , CM000674.1:g.5153914C>T GRCh37
NC_000012.10:g.5024175C>T NCBI36
NG_012198.1:g.5830C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.601C>T MANE Select ENSP00000252321.3:p.Arg201Cys
ENST00000252321.4:c.601C>T ENSP00000252321.3:p.Arg201Cys
NM_002234.3:c.601C>T NP_002225.2:p.Arg201Cys
NM_002234.4:c.601C>T MANE Select NP_002225.2:p.Arg201Cys
Search 100 bp 5'
Search 100 bp 3'