Canonical Allele Identifier: CA383467044
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 648351
ClinVar RCV Id: RCV000803060
dbSNP Id: rs1281374886
gnomAD v3: 12-5045849-G-T
gnomAD v4: 12-5045849-G-T
COSMIC: COSM3954872
MyVariant Identifiers: chr12:g.5155015G>T (hg19) chr12:g.5045849G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045849G>T , CM000674.2:g.5045849G>T GRCh38
NC_000012.11:g.5155015G>T , CM000674.1:g.5155015G>T GRCh37
NC_000012.10:g.5025276G>T NCBI36
NG_012198.1:g.6931G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1702G>T MANE Select ENSP00000252321.3:p.Gly568Trp
ENST00000252321.4:c.1702G>T ENSP00000252321.3:p.Gly568Trp
NM_002234.3:c.1702G>T NP_002225.2:p.Gly568Trp
NM_002234.4:c.1702G>T MANE Select NP_002225.2:p.Gly568Trp
Search 100 bp 5'
Search 100 bp 3'