Canonical Allele Identifier: CA251666

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1010
• ClinVar RCV Id: RCV000001065
• dbSNP Id: rs137853114
• COSMIC: COSM4548818 ; COSM4548819
• MyVariant Identifiers: chr7:g.23180402G>A (hg19) ; chr7:g.23140783G>A (hg38)
• PubMed: PMID:19520207 ; PMID:21828050

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23140783G>A , CM000669.2:g.23140783G>A	GRCh38
NC_000007.13:g.23180402G>A , CM000669.1:g.23180402G>A	GRCh37
NC_000007.12:g.23146927G>A	NCBI36
NG_016983.1:g.40050G>A
NG_016983.2:g.40050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.457G>A MANE Select	ENSP00000343273.4:p.Ala153Thr
ENST00000339077.9:c.457G>A	ENSP00000343273.4:p.Ala153Thr
ENST00000409689.5:c.313G>A	ENSP00000386263.1:p.Ala105Thr
ENST00000459661.5:n.591G>A
ENST00000479288.5:n.404G>A
ENST00000521082.5:c.*465G>A	ENSP00000430351.1:n.*465G>A
NM_001031710.2:c.457G>A	NP_001026880.2:p.Ala153Thr
NM_018846.4:c.313G>A	NP_061334.4:p.Ala105Thr
NR_033328.1:n.881G>A
XM_006715753.1:c.496G>A	XP_006715816.1:p.Ala166Thr
XM_006715754.1:c.430G>A	XP_006715817.1:p.Ala144Thr
XM_006715755.1:c.430G>A	XP_006715818.1:p.Ala144Thr
XM_006715756.1:c.352G>A	XP_006715819.1:p.Ala118Thr
XM_006715757.2:c.496G>A	XP_006715820.1:p.Ala166Thr
XM_006715753.3:c.496G>A	XP_006715816.1:p.Ala166Thr
XM_006715754.3:c.430G>A	XP_006715817.1:p.Ala144Thr
XM_006715755.3:c.430G>A	XP_006715818.1:p.Ala144Thr
XM_006715756.3:c.352G>A	XP_006715819.1:p.Ala118Thr
XM_006715757.4:c.496G>A	XP_006715820.1:p.Ala166Thr
XM_017012439.2:c.391G>A	XP_016867928.1:p.Ala131Thr
XM_017012440.2:c.457G>A	XP_016867929.1:p.Ala153Thr
XM_017012441.2:c.391G>A	XP_016867930.1:p.Ala131Thr
NM_001031710.3:c.457G>A MANE Select	NP_001026880.2:p.Ala153Thr
NM_018846.5:c.313G>A	NP_061334.4:p.Ala105Thr
NR_033328.2:n.830G>A