Canonical Allele Identifier: CA10576260

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 226130
• ClinVar RCV Id: RCV000239571 ; RCV000490973
• dbSNP Id: rs879255558
• gnomAD v4: 7-23165876-G-A
• MyVariant Identifiers: chr7:g.23205495G>A (hg19) ; chr7:g.23165876G>A (hg38)
• PubMed: PMID:27392078

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165876G>A , CM000669.2:g.23165876G>A	GRCh38
NC_000007.13:g.23205495G>A , CM000669.1:g.23205495G>A	GRCh37
NC_000007.12:g.23172020G>A	NCBI36
NG_016983.1:g.65143G>A
NG_016983.2:g.65143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1115G>A MANE Select	ENSP00000343273.4:p.Arg372Gln
ENST00000339077.9:c.1115G>A	ENSP00000343273.4:p.Arg372Gln
ENST00000409689.5:c.971G>A	ENSP00000386263.1:p.Arg324Gln
ENST00000469576.1:n.2G>A
ENST00000521082.5:c.*1123G>A	ENSP00000430351.1:n.*1123G>A
NM_001031710.2:c.1115G>A	NP_001026880.2:p.Arg372Gln
NM_018846.4:c.971G>A	NP_061334.4:p.Arg324Gln
NR_033328.1:n.1539G>A
XM_006715753.1:c.1154G>A	XP_006715816.1:p.Arg385Gln
XM_006715754.1:c.1088G>A	XP_006715817.1:p.Arg363Gln
XM_006715755.1:c.1088G>A	XP_006715818.1:p.Arg363Gln
XM_006715756.1:c.1010G>A	XP_006715819.1:p.Arg337Gln
XM_006715753.3:c.1154G>A	XP_006715816.1:p.Arg385Gln
XM_006715754.3:c.1088G>A	XP_006715817.1:p.Arg363Gln
XM_006715755.3:c.1088G>A	XP_006715818.1:p.Arg363Gln
XM_006715756.3:c.1010G>A	XP_006715819.1:p.Arg337Gln
XM_017012439.2:c.1049G>A	XP_016867928.1:p.Arg350Gln
NM_001031710.3:c.1115G>A MANE Select	NP_001026880.2:p.Arg372Gln
NM_018846.5:c.971G>A	NP_061334.4:p.Arg324Gln
NR_033328.2:n.1488G>A