Canonical Allele Identifier: CA366981181

Gene: KLHL7

Linked Data

• dbSNP Id: rs1562591163
• gnomAD v2: 7-23205357-G-A
• gnomAD v3: 7-23165738-G-A
• gnomAD v4: 7-23165738-G-A
• MyVariant Identifiers: chr7:g.23205357G>A (hg19) ; chr7:g.23165738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165738G>A , CM000669.2:g.23165738G>A	GRCh38
NC_000007.13:g.23205357G>A , CM000669.1:g.23205357G>A	GRCh37
NC_000007.12:g.23171882G>A	NCBI36
NG_016983.1:g.65005G>A
NG_016983.2:g.65005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.977G>A MANE Select	ENSP00000343273.4:p.Arg326Gln
ENST00000339077.9:c.977G>A	ENSP00000343273.4:p.Arg326Gln
ENST00000409689.5:c.833G>A	ENSP00000386263.1:p.Arg278Gln
ENST00000521082.5:c.*985G>A	ENSP00000430351.1:n.*985G>A
NM_001031710.2:c.977G>A	NP_001026880.2:p.Arg326Gln
NM_018846.4:c.833G>A	NP_061334.4:p.Arg278Gln
NR_033328.1:n.1401G>A
XM_006715753.1:c.1016G>A	XP_006715816.1:p.Arg339Gln
XM_006715754.1:c.950G>A	XP_006715817.1:p.Arg317Gln
XM_006715755.1:c.950G>A	XP_006715818.1:p.Arg317Gln
XM_006715756.1:c.872G>A	XP_006715819.1:p.Arg291Gln
XM_006715753.3:c.1016G>A	XP_006715816.1:p.Arg339Gln
XM_006715754.3:c.950G>A	XP_006715817.1:p.Arg317Gln
XM_006715755.3:c.950G>A	XP_006715818.1:p.Arg317Gln
XM_006715756.3:c.872G>A	XP_006715819.1:p.Arg291Gln
XM_017012439.2:c.911G>A	XP_016867928.1:p.Arg304Gln
NM_001031710.3:c.977G>A MANE Select	NP_001026880.2:p.Arg326Gln
NM_018846.5:c.833G>A	NP_061334.4:p.Arg278Gln
NR_033328.2:n.1350G>A