Canonical Allele Identifier: CA4186655

Gene: KLHL7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23174134T>C , CM000669.2:g.23174134T>C	GRCh38
NC_000007.13:g.23213753T>C , CM000669.1:g.23213753T>C	GRCh37
NC_000007.12:g.23180278T>C	NCBI36
NG_016983.1:g.73401T>C
NG_016983.2:g.73401T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001031710.3:c.1597T>C MANE Select	NP_001026880.2:p.Leu533=
ENST00000339077.10:c.1597T>C MANE Select	ENSP00000343273.4:p.Leu533=
NM_001031710.2:c.1597T>C	NP_001026880.2:p.Leu533=
NM_018846.4:c.1453T>C	NP_061334.4:p.Leu485=
NM_018846.5:c.1453T>C	NP_061334.4:p.Leu485=
NR_033328.1:n.2021T>C
NR_033328.2:n.1970T>C
ENST00000339077.9:c.1597T>C	ENSP00000343273.4:p.Leu533=
ENST00000409689.5:c.1453T>C	ENSP00000386263.1:p.Leu485=
ENST00000469845.1:n.377T>C
ENST00000521082.5:c.*1605T>C	ENSP00000430351.1:n.*1605T>C
XM_006715753.1:c.1636T>C	XP_006715816.1:p.Leu546=
XM_006715753.3:c.1636T>C	XP_006715816.1:p.Leu546=
XM_006715754.1:c.1570T>C	XP_006715817.1:p.Leu524=
XM_006715754.3:c.1570T>C	XP_006715817.1:p.Leu524=
XM_006715755.1:c.1570T>C	XP_006715818.1:p.Leu524=
XM_006715755.3:c.1570T>C	XP_006715818.1:p.Leu524=
XM_006715756.1:c.1492T>C	XP_006715819.1:p.Leu498=
XM_006715756.3:c.1492T>C	XP_006715819.1:p.Leu498=
XM_017012439.2:c.1531T>C	XP_016867928.1:p.Leu511=