Canonical Allele Identifier: CA2336833

Gene: KLHL40

Linked Data

• dbSNP Id: rs762354612
• ExAC: 3:42729606 G / A
• gnomAD v2: 3-42729606-G-A
• gnomAD v3: 3-42688114-G-A
• gnomAD v4: 3-42688114-G-A
• MyVariant Identifiers: chr3:g.42729606G>A (hg19) ; chr3:g.42688114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.42688114G>A , CM000665.2:g.42688114G>A	GRCh38
NC_000003.11:g.42729606G>A , CM000665.1:g.42729606G>A	GRCh37
NC_000003.10:g.42704610G>A	NCBI36
NG_033035.1:g.7596G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287777.5:c.1153-28G>A MANE Select	ENSP00000287777.4:n.1153-28G>A
ENST00000287777.4:c.1153-28G>A	ENSP00000287777.4:n.1153-28G>A
NM_152393.3:c.1153-28G>A	NP_689606.2:n.1153-28G>A
XM_005264866.2:c.1153-28G>A	XP_005264923.1:n.1153-28G>A
NM_152393.4:c.1153-28G>A MANE Select	NP_689606.2:n.1153-28G>A