Canonical Allele Identifier: CA366981635

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165938-G-C
• MyVariant Identifiers: chr7:g.23205557G>C (hg19) ; chr7:g.23165938G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165938G>C , CM000669.2:g.23165938G>C	GRCh38
NC_000007.13:g.23205557G>C , CM000669.1:g.23205557G>C	GRCh37
NC_000007.12:g.23172082G>C	NCBI36
NG_016983.1:g.65205G>C
NG_016983.2:g.65205G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177G>C MANE Select	ENSP00000343273.4:p.Gly393Arg
ENST00000339077.9:c.1177G>C	ENSP00000343273.4:p.Gly393Arg
ENST00000409689.5:c.1033G>C	ENSP00000386263.1:p.Gly345Arg
ENST00000469576.1:n.64G>C
ENST00000521082.5:c.*1185G>C	ENSP00000430351.1:n.*1185G>C
NM_001031710.2:c.1177G>C	NP_001026880.2:p.Gly393Arg
NM_018846.4:c.1033G>C	NP_061334.4:p.Gly345Arg
NR_033328.1:n.1601G>C
XM_006715753.1:c.1216G>C	XP_006715816.1:p.Gly406Arg
XM_006715754.1:c.1150G>C	XP_006715817.1:p.Gly384Arg
XM_006715755.1:c.1150G>C	XP_006715818.1:p.Gly384Arg
XM_006715756.1:c.1072G>C	XP_006715819.1:p.Gly358Arg
XM_006715753.3:c.1216G>C	XP_006715816.1:p.Gly406Arg
XM_006715754.3:c.1150G>C	XP_006715817.1:p.Gly384Arg
XM_006715755.3:c.1150G>C	XP_006715818.1:p.Gly384Arg
XM_006715756.3:c.1072G>C	XP_006715819.1:p.Gly358Arg
XM_017012439.2:c.1111G>C	XP_016867928.1:p.Gly371Arg
NM_001031710.3:c.1177G>C MANE Select	NP_001026880.2:p.Gly393Arg
NM_018846.5:c.1033G>C	NP_061334.4:p.Gly345Arg
NR_033328.2:n.1550G>C