Canonical Allele Identifier: CA352293266

Gene: KLHL40

Linked Data

• MyVariant Identifiers: chr3:g.42729654G>T (hg19) ; chr3:g.42688162G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42688162G>T , CM000665.2:g.42688162G>T	GRCh38
NC_000003.11:g.42729654G>T , CM000665.1:g.42729654G>T	GRCh37
NC_000003.10:g.42704658G>T	NCBI36
NG_033035.1:g.7644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287777.5:c.1173G>T MANE Select	ENSP00000287777.4:p.Glu391Asp
ENST00000287777.4:c.1173G>T	ENSP00000287777.4:p.Glu391Asp
NM_152393.3:c.1173G>T	NP_689606.2:p.Glu391Asp
XM_005264866.2:c.1173G>T	XP_005264923.1:p.Glu391Asp
NM_152393.4:c.1173G>T MANE Select	NP_689606.2:p.Glu391Asp