Canonical Allele Identifier: CA2336644

Gene: KLHL40

Linked Data

• ClinVar Variation Id: 474335
• ClinVar RCV Id: RCV000545599 ; RCV002525309
• dbSNP Id: rs142285083
• ExAC: 3:42727523 G / C
• gnomAD v2: 3-42727523-G-C
• gnomAD v3: 3-42686031-G-C
• gnomAD v4: 3-42686031-G-C
• MyVariant Identifiers: chr3:g.42727523G>C (hg19) ; chr3:g.42686031G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42686031G>C , CM000665.2:g.42686031G>C	GRCh38
NC_000003.11:g.42727523G>C , CM000665.1:g.42727523G>C	GRCh37
NC_000003.10:g.42702527G>C	NCBI36
NG_033035.1:g.5513G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287777.5:c.413G>C MANE Select	ENSP00000287777.4:p.Arg138Pro
ENST00000287777.4:c.413G>C	ENSP00000287777.4:p.Arg138Pro
NM_152393.3:c.413G>C	NP_689606.2:p.Arg138Pro
XM_005264866.2:c.413G>C	XP_005264923.1:p.Arg138Pro
NM_152393.4:c.413G>C MANE Select	NP_689606.2:p.Arg138Pro