Canonical Allele Identifier: CA366981564

Gene: KLHL7

Linked Data

• MyVariant Identifiers: chr7:g.23205524G>T (hg19) ; chr7:g.23165905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165905G>T , CM000669.2:g.23165905G>T	GRCh38
NC_000007.13:g.23205524G>T , CM000669.1:g.23205524G>T	GRCh37
NC_000007.12:g.23172049G>T	NCBI36
NG_016983.1:g.65172G>T
NG_016983.2:g.65172G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1144G>T MANE Select	ENSP00000343273.4:p.Gly382Cys
ENST00000339077.9:c.1144G>T	ENSP00000343273.4:p.Gly382Cys
ENST00000409689.5:c.1000G>T	ENSP00000386263.1:p.Gly334Cys
ENST00000469576.1:n.31G>T
ENST00000521082.5:c.*1152G>T	ENSP00000430351.1:n.*1152G>T
NM_001031710.2:c.1144G>T	NP_001026880.2:p.Gly382Cys
NM_018846.4:c.1000G>T	NP_061334.4:p.Gly334Cys
NR_033328.1:n.1568G>T
XM_006715753.1:c.1183G>T	XP_006715816.1:p.Gly395Cys
XM_006715754.1:c.1117G>T	XP_006715817.1:p.Gly373Cys
XM_006715755.1:c.1117G>T	XP_006715818.1:p.Gly373Cys
XM_006715756.1:c.1039G>T	XP_006715819.1:p.Gly347Cys
XM_006715753.3:c.1183G>T	XP_006715816.1:p.Gly395Cys
XM_006715754.3:c.1117G>T	XP_006715817.1:p.Gly373Cys
XM_006715755.3:c.1117G>T	XP_006715818.1:p.Gly373Cys
XM_006715756.3:c.1039G>T	XP_006715819.1:p.Gly347Cys
XM_017012439.2:c.1078G>T	XP_016867928.1:p.Gly360Cys
NM_001031710.3:c.1144G>T MANE Select	NP_001026880.2:p.Gly382Cys
NM_018846.5:c.1000G>T	NP_061334.4:p.Gly334Cys
NR_033328.2:n.1517G>T