Canonical Allele Identifier: CA366981218

Gene: KLHL7

Linked Data

• dbSNP Id: rs1350093130
• gnomAD v2: 7-23205374-G-A
• gnomAD v3: 7-23165755-G-A
• gnomAD v4: 7-23165755-G-A
• COSMIC: COSM3026058 ; COSM3026059
• MyVariant Identifiers: chr7:g.23205374G>A (hg19) ; chr7:g.23165755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165755G>A , CM000669.2:g.23165755G>A	GRCh38
NC_000007.13:g.23205374G>A , CM000669.1:g.23205374G>A	GRCh37
NC_000007.12:g.23171899G>A	NCBI36
NG_016983.1:g.65022G>A
NG_016983.2:g.65022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.994G>A MANE Select	ENSP00000343273.4:p.Val332Met
ENST00000339077.9:c.994G>A	ENSP00000343273.4:p.Val332Met
ENST00000409689.5:c.850G>A	ENSP00000386263.1:p.Val284Met
ENST00000521082.5:c.*1002G>A	ENSP00000430351.1:n.*1002G>A
NM_001031710.2:c.994G>A	NP_001026880.2:p.Val332Met
NM_018846.4:c.850G>A	NP_061334.4:p.Val284Met
NR_033328.1:n.1418G>A
XM_006715753.1:c.1033G>A	XP_006715816.1:p.Val345Met
XM_006715754.1:c.967G>A	XP_006715817.1:p.Val323Met
XM_006715755.1:c.967G>A	XP_006715818.1:p.Val323Met
XM_006715756.1:c.889G>A	XP_006715819.1:p.Val297Met
XM_006715753.3:c.1033G>A	XP_006715816.1:p.Val345Met
XM_006715754.3:c.967G>A	XP_006715817.1:p.Val323Met
XM_006715755.3:c.967G>A	XP_006715818.1:p.Val323Met
XM_006715756.3:c.889G>A	XP_006715819.1:p.Val297Met
XM_017012439.2:c.928G>A	XP_016867928.1:p.Val310Met
NM_001031710.3:c.994G>A MANE Select	NP_001026880.2:p.Val332Met
NM_018846.5:c.850G>A	NP_061334.4:p.Val284Met
NR_033328.2:n.1367G>A