Canonical Allele Identifier: CA4186535

Gene: KLHL7

Linked Data

• dbSNP Id: rs766211473
• ExAC: 7:23205339 G / A
• gnomAD v2: 7-23205339-G-A
• gnomAD v4: 7-23165720-G-A
• COSMIC: COSM4696598 ; COSM4696599
• MyVariant Identifiers: chr7:g.23205339G>A (hg19) ; chr7:g.23165720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165720G>A , CM000669.2:g.23165720G>A	GRCh38
NC_000007.13:g.23205339G>A , CM000669.1:g.23205339G>A	GRCh37
NC_000007.12:g.23171864G>A	NCBI36
NG_016983.1:g.64987G>A
NG_016983.2:g.64987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.959G>A MANE Select	ENSP00000343273.4:p.Arg320His
ENST00000339077.9:c.959G>A	ENSP00000343273.4:p.Arg320His
ENST00000409689.5:c.815G>A	ENSP00000386263.1:p.Arg272His
ENST00000521082.5:c.*967G>A	ENSP00000430351.1:n.*967G>A
NM_001031710.2:c.959G>A	NP_001026880.2:p.Arg320His
NM_018846.4:c.815G>A	NP_061334.4:p.Arg272His
NR_033328.1:n.1383G>A
XM_006715753.1:c.998G>A	XP_006715816.1:p.Arg333His
XM_006715754.1:c.932G>A	XP_006715817.1:p.Arg311His
XM_006715755.1:c.932G>A	XP_006715818.1:p.Arg311His
XM_006715756.1:c.854G>A	XP_006715819.1:p.Arg285His
XM_006715753.3:c.998G>A	XP_006715816.1:p.Arg333His
XM_006715754.3:c.932G>A	XP_006715817.1:p.Arg311His
XM_006715755.3:c.932G>A	XP_006715818.1:p.Arg311His
XM_006715756.3:c.854G>A	XP_006715819.1:p.Arg285His
XM_017012439.2:c.893G>A	XP_016867928.1:p.Arg298His
NM_001031710.3:c.959G>A MANE Select	NP_001026880.2:p.Arg320His
NM_018846.5:c.815G>A	NP_061334.4:p.Arg272His
NR_033328.2:n.1332G>A