Canonical Allele Identifier: CA366977477

Gene: KLHL7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23143874G>C , CM000669.2:g.23143874G>C	GRCh38
NC_000007.13:g.23183493G>C , CM000669.1:g.23183493G>C	GRCh37
NC_000007.12:g.23150018G>C	NCBI36
NG_016983.1:g.43141G>C
NG_016983.2:g.43141G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001031710.3:c.642G>C MANE Select	NP_001026880.2:p.Trp214Cys
ENST00000339077.10:c.642G>C MANE Select	ENSP00000343273.4:p.Trp214Cys
NM_001031710.2:c.642G>C	NP_001026880.2:p.Trp214Cys
NM_018846.4:c.498G>C	NP_061334.4:p.Trp166Cys
NM_018846.5:c.498G>C	NP_061334.4:p.Trp166Cys
NR_033328.1:n.1066G>C
NR_033328.2:n.1015G>C
ENST00000339077.9:c.642G>C	ENSP00000343273.4:p.Trp214Cys
ENST00000409689.5:c.498G>C	ENSP00000386263.1:p.Trp166Cys
ENST00000479288.5:n.589G>C
ENST00000521082.5:c.*650G>C	ENSP00000430351.1:n.*650G>C
XM_006715753.1:c.681G>C	XP_006715816.1:p.Trp227Cys
XM_006715753.3:c.681G>C	XP_006715816.1:p.Trp227Cys
XM_006715754.1:c.615G>C	XP_006715817.1:p.Trp205Cys
XM_006715754.3:c.615G>C	XP_006715817.1:p.Trp205Cys
XM_006715755.1:c.615G>C	XP_006715818.1:p.Trp205Cys
XM_006715755.3:c.615G>C	XP_006715818.1:p.Trp205Cys
XM_006715756.1:c.537G>C	XP_006715819.1:p.Trp179Cys
XM_006715756.3:c.537G>C	XP_006715819.1:p.Trp179Cys
XM_006715757.2:c.681G>C	XP_006715820.1:p.Trp227Cys
XM_006715757.4:c.681G>C	XP_006715820.1:p.Trp227Cys
XM_017012439.2:c.576G>C	XP_016867928.1:p.Trp192Cys
XM_017012440.2:c.642G>C	XP_016867929.1:p.Trp214Cys
XM_017012441.2:c.576G>C	XP_016867930.1:p.Trp192Cys