Canonical Allele Identifier: CA2336877
Gene: KLHL40 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417877
ClinVar RCV Id: RCV001951902
dbSNP Id: rs760403231
ExAC: 3:42729757 G / A
gnomAD v2: 3-42729757-G-A
gnomAD v3: 3-42688265-G-A
gnomAD v4: 3-42688265-G-A
COSMIC: COSM4640527
MyVariant Identifiers: chr3:g.42729757G>A (hg19) chr3:g.42688265G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688265G>A , CM000665.2:g.42688265G>A GRCh38
NC_000003.11:g.42729757G>A , CM000665.1:g.42729757G>A GRCh37
NC_000003.10:g.42704761G>A NCBI36
NG_033035.1:g.7747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1276G>A MANE Select ENSP00000287777.4:p.Glu426Lys
ENST00000287777.4:c.1276G>A ENSP00000287777.4:p.Glu426Lys
NM_152393.3:c.1276G>A NP_689606.2:p.Glu426Lys
XM_005264866.2:c.1276G>A XP_005264923.1:p.Glu426Lys
NM_152393.4:c.1276G>A MANE Select NP_689606.2:p.Glu426Lys
Search 100 bp 5'
Search 100 bp 3'