Canonical Allele Identifier: CA251665

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1008
• ClinVar RCV Id: RCV000001063 ; RCV001383036
• dbSNP Id: rs137853112
• MyVariant Identifiers: chr7:g.23180394G>A (hg19) ; chr7:g.23140775G>A (hg38)
• PubMed: PMID:1872134 ; PMID:19520207

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23140775G>A , CM000669.2:g.23140775G>A	GRCh38
NC_000007.13:g.23180394G>A , CM000669.1:g.23180394G>A	GRCh37
NC_000007.12:g.23146919G>A	NCBI36
NG_016983.1:g.40042G>A
NG_016983.2:g.40042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.449G>A MANE Select	ENSP00000343273.4:p.Ser150Asn
ENST00000339077.9:c.449G>A	ENSP00000343273.4:p.Ser150Asn
ENST00000409689.5:c.305G>A	ENSP00000386263.1:p.Ser102Asn
ENST00000459661.5:n.583G>A
ENST00000479288.5:n.396G>A
ENST00000521082.5:c.*457G>A	ENSP00000430351.1:n.*457G>A
NM_001031710.2:c.449G>A	NP_001026880.2:p.Ser150Asn
NM_018846.4:c.305G>A	NP_061334.4:p.Ser102Asn
NR_033328.1:n.873G>A
XM_006715753.1:c.488G>A	XP_006715816.1:p.Ser163Asn
XM_006715754.1:c.422G>A	XP_006715817.1:p.Ser141Asn
XM_006715755.1:c.422G>A	XP_006715818.1:p.Ser141Asn
XM_006715756.1:c.344G>A	XP_006715819.1:p.Ser115Asn
XM_006715757.2:c.488G>A	XP_006715820.1:p.Ser163Asn
XM_006715753.3:c.488G>A	XP_006715816.1:p.Ser163Asn
XM_006715754.3:c.422G>A	XP_006715817.1:p.Ser141Asn
XM_006715755.3:c.422G>A	XP_006715818.1:p.Ser141Asn
XM_006715756.3:c.344G>A	XP_006715819.1:p.Ser115Asn
XM_006715757.4:c.488G>A	XP_006715820.1:p.Ser163Asn
XM_017012439.2:c.383G>A	XP_016867928.1:p.Ser128Asn
XM_017012440.2:c.449G>A	XP_016867929.1:p.Ser150Asn
XM_017012441.2:c.383G>A	XP_016867930.1:p.Ser128Asn
NM_001031710.3:c.449G>A MANE Select	NP_001026880.2:p.Ser150Asn
NM_018846.5:c.305G>A	NP_061334.4:p.Ser102Asn
NR_033328.2:n.822G>A