Canonical Allele Identifier: CA231866981
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 653091
ClinVar RCV Id: RCV000808789
dbSNP Id: rs1003591437
gnomAD v2: 12-5153543-C-G
gnomAD v3: 12-5044377-C-G
gnomAD v4: 12-5044377-C-G
MyVariant Identifiers: chr12:g.5153543C>G (hg19) chr12:g.5044377C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044377C>G , CM000674.2:g.5044377C>G GRCh38
NC_000012.11:g.5153543C>G , CM000674.1:g.5153543C>G GRCh37
NC_000012.10:g.5023804C>G NCBI36
NG_012198.1:g.5459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.230C>G MANE Select ENSP00000252321.3:p.Pro77Arg
ENST00000252321.4:c.230C>G ENSP00000252321.3:p.Pro77Arg
NM_002234.3:c.230C>G NP_002225.2:p.Pro77Arg
NM_002234.4:c.230C>G MANE Select NP_002225.2:p.Pro77Arg
Search 100 bp 5'
Search 100 bp 3'