Canonical Allele Identifier: CA383462141
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2730085
ClinVar RCV Id: RCV003516160
dbSNP Id: rs202083721
gnomAD v2: 12-5153542-C-G
gnomAD v3: 12-5044376-C-G
gnomAD v4: 12-5044376-C-G
MyVariant Identifiers: chr12:g.5153542C>G (hg19) chr12:g.5044376C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044376C>G , CM000674.2:g.5044376C>G GRCh38
NC_000012.11:g.5153542C>G , CM000674.1:g.5153542C>G GRCh37
NC_000012.10:g.5023803C>G NCBI36
NG_012198.1:g.5458C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.229C>G MANE Select ENSP00000252321.3:p.Pro77Ala
ENST00000252321.4:c.229C>G ENSP00000252321.3:p.Pro77Ala
NM_002234.3:c.229C>G NP_002225.2:p.Pro77Ala
NM_002234.4:c.229C>G MANE Select NP_002225.2:p.Pro77Ala
Search 100 bp 5'
Search 100 bp 3'