Canonical Allele Identifier: CA4186447

Gene: KLHL7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23140839G>A , CM000669.2:g.23140839G>A	GRCh38
NC_000007.13:g.23180458G>A , CM000669.1:g.23180458G>A	GRCh37
NC_000007.12:g.23146983G>A	NCBI36
NG_016983.1:g.40106G>A
NG_016983.2:g.40106G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001031710.3:c.513G>A MANE Select	NP_001026880.2:p.Gln171=
ENST00000339077.10:c.513G>A MANE Select	ENSP00000343273.4:p.Gln171=
NM_001031710.2:c.513G>A	NP_001026880.2:p.Gln171=
NM_018846.4:c.369G>A	NP_061334.4:p.Gln123=
NM_018846.5:c.369G>A	NP_061334.4:p.Gln123=
NR_033328.1:n.937G>A
NR_033328.2:n.886G>A
ENST00000339077.9:c.513G>A	ENSP00000343273.4:p.Gln171=
ENST00000409689.5:c.369G>A	ENSP00000386263.1:p.Gln123=
ENST00000479288.5:n.460G>A
ENST00000521082.5:c.*521G>A	ENSP00000430351.1:n.*521G>A
XM_006715753.1:c.552G>A	XP_006715816.1:p.Gln184=
XM_006715753.3:c.552G>A	XP_006715816.1:p.Gln184=
XM_006715754.1:c.486G>A	XP_006715817.1:p.Gln162=
XM_006715754.3:c.486G>A	XP_006715817.1:p.Gln162=
XM_006715755.1:c.486G>A	XP_006715818.1:p.Gln162=
XM_006715755.3:c.486G>A	XP_006715818.1:p.Gln162=
XM_006715756.1:c.408G>A	XP_006715819.1:p.Gln136=
XM_006715756.3:c.408G>A	XP_006715819.1:p.Gln136=
XM_006715757.2:c.552G>A	XP_006715820.1:p.Gln184=
XM_006715757.4:c.552G>A	XP_006715820.1:p.Gln184=
XM_017012439.2:c.447G>A	XP_016867928.1:p.Gln149=
XM_017012440.2:c.513G>A	XP_016867929.1:p.Gln171=
XM_017012441.2:c.447G>A	XP_016867930.1:p.Gln149=