Canonical Allele Identifier: CA352293554

Gene: KLHL40

Linked Data

• MyVariant Identifiers: chr3:g.42729747C>G (hg19) ; chr3:g.42688255C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42688255C>G , CM000665.2:g.42688255C>G	GRCh38
NC_000003.11:g.42729747C>G , CM000665.1:g.42729747C>G	GRCh37
NC_000003.10:g.42704751C>G	NCBI36
NG_033035.1:g.7737C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287777.5:c.1266C>G MANE Select	ENSP00000287777.4:p.Ile422Met
ENST00000287777.4:c.1266C>G	ENSP00000287777.4:p.Ile422Met
NM_152393.3:c.1266C>G	NP_689606.2:p.Ile422Met
XM_005264866.2:c.1266C>G	XP_005264923.1:p.Ile422Met
NM_152393.4:c.1266C>G MANE Select	NP_689606.2:p.Ile422Met