Canonical Allele Identifier: CA366981842

Gene: KLHL7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23167920G>C , CM000669.2:g.23167920G>C	GRCh38
NC_000007.13:g.23207539G>C , CM000669.1:g.23207539G>C	GRCh37
NC_000007.12:g.23174064G>C	NCBI36
NG_016983.1:g.67187G>C
NG_016983.2:g.67187G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001031710.3:c.1262G>C MANE Select	NP_001026880.2:p.Cys421Ser
ENST00000339077.10:c.1262G>C MANE Select	ENSP00000343273.4:p.Cys421Ser
NM_001031710.2:c.1262G>C	NP_001026880.2:p.Cys421Ser
NM_018846.4:c.1118G>C	NP_061334.4:p.Cys373Ser
NM_018846.5:c.1118G>C	NP_061334.4:p.Cys373Ser
NR_033328.1:n.1686G>C
NR_033328.2:n.1635G>C
ENST00000339077.9:c.1262G>C	ENSP00000343273.4:p.Cys421Ser
ENST00000409689.5:c.1118G>C	ENSP00000386263.1:p.Cys373Ser
ENST00000469576.1:n.149G>C
ENST00000521082.5:c.*1270G>C	ENSP00000430351.1:n.*1270G>C
XM_006715753.1:c.1301G>C	XP_006715816.1:p.Cys434Ser
XM_006715753.3:c.1301G>C	XP_006715816.1:p.Cys434Ser
XM_006715754.1:c.1235G>C	XP_006715817.1:p.Cys412Ser
XM_006715754.3:c.1235G>C	XP_006715817.1:p.Cys412Ser
XM_006715755.1:c.1235G>C	XP_006715818.1:p.Cys412Ser
XM_006715755.3:c.1235G>C	XP_006715818.1:p.Cys412Ser
XM_006715756.1:c.1157G>C	XP_006715819.1:p.Cys386Ser
XM_006715756.3:c.1157G>C	XP_006715819.1:p.Cys386Ser
XM_017012439.2:c.1196G>C	XP_016867928.1:p.Cys399Ser