Canonical Allele Identifier: CA478095180
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2732689
ClinVar RCV Id: RCV003516245
dbSNP Id: rs750529130
gnomAD v2: 12-5153991-C-G
gnomAD v3: 12-5044825-C-G
gnomAD v4: 12-5044825-C-G
COSMIC: COSM5030486
MyVariant Identifiers: chr12:g.5153991C>G (hg19) chr12:g.5044825C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044825C>G , CM000674.2:g.5044825C>G GRCh38
NC_000012.11:g.5153991C>G , CM000674.1:g.5153991C>G GRCh37
NC_000012.10:g.5024252C>G NCBI36
NG_012198.1:g.5907C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.678C>G MANE Select ENSP00000252321.3:p.Pro226=
ENST00000252321.4:c.678C>G ENSP00000252321.3:p.Pro226=
NM_002234.3:c.678C>G NP_002225.2:p.Pro226=
NM_002234.4:c.678C>G MANE Select NP_002225.2:p.Pro226=
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Search 100 bp 3'