Canonical Allele Identifier: CA603072732
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 881742
ClinVar RCV Id: RCV001110958
dbSNP Id: rs1459093560
gnomAD v2: 12-5153104-G-C
gnomAD v3: 12-5043938-G-C
gnomAD v4: 12-5043938-G-C
MyVariant Identifiers: chr12:g.5153104G>C (hg19) chr12:g.5043938G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5043938G>C , CM000674.2:g.5043938G>C GRCh38
NC_000012.11:g.5153104G>C , CM000674.1:g.5153104G>C GRCh37
NC_000012.10:g.5023365G>C NCBI36
NG_012198.1:g.5020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.-210G>C MANE Select ENSP00000252321.3:n.-210G>C
NM_002234.3:c.-210G>C NP_002225.2:n.-210G>C
NM_002234.4:c.-210G>C MANE Select NP_002225.2:n.-210G>C
Search 100 bp 5'
Search 100 bp 3'