Canonical Allele Identifier: CA4186299
Community Standard Title: NM_001031710.3(KLHL7):c.126G>A (p.Thr42=)
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23123782G>A , CM000669.2:g.23123782G>A GRCh38
NC_000007.13:g.23163401G>A , CM000669.1:g.23163401G>A GRCh37
NC_000007.12:g.23129926G>A NCBI36
NG_016983.1:g.23049G>A
NG_016983.2:g.23049G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001031710.3:c.126G>A MANE Select NP_001026880.2:p.Thr42=
ENST00000339077.10:c.126G>A MANE Select ENSP00000343273.4:p.Thr42=
NM_001031710.2:c.126G>A NP_001026880.2:p.Thr42=
NM_001172428.1:c.126G>A NP_001165899.1:p.Thr42=
NM_001172428.2:c.126G>A NP_001165899.1:p.Thr42=
NM_018846.4:c.-19G>A NP_061334.4:n.-19G>A
NM_018846.5:c.-19G>A NP_061334.4:n.-19G>A
NR_033328.1:n.550G>A
NR_033328.2:n.499G>A
NR_033329.1:n.550G>A
NR_033329.2:n.499G>A
ENST00000322275.9:c.126G>A ENSP00000323270.5:p.Thr42=
ENST00000339077.9:c.126G>A ENSP00000343273.4:p.Thr42=
ENST00000409689.5:c.-19G>A ENSP00000386263.1:n.-19G>A
ENST00000410047.1:c.60G>A ENSP00000386999.1:p.Thr20=
ENST00000459661.5:n.358-906G>A
ENST00000479288.5:n.390-16987G>A
ENST00000479700.1:n.145G>A
ENST00000491352.5:n.167G>A
ENST00000521082.5:c.*134G>A ENSP00000430351.1:n.*134G>A
XM_006715753.1:c.126G>A XP_006715816.1:p.Thr42=
XM_006715753.3:c.126G>A XP_006715816.1:p.Thr42=
XM_006715754.1:c.60G>A XP_006715817.1:p.Thr20=
XM_006715754.3:c.60G>A XP_006715817.1:p.Thr20=
XM_006715755.1:c.60G>A XP_006715818.1:p.Thr20=
XM_006715755.3:c.60G>A XP_006715818.1:p.Thr20=
XM_006715756.1:c.-19G>A XP_006715819.1:n.-19G>A
XM_006715756.3:c.-19G>A XP_006715819.1:n.-19G>A
XM_006715757.2:c.126G>A XP_006715820.1:p.Thr42=
XM_006715757.4:c.126G>A XP_006715820.1:p.Thr42=
XM_017012439.2:c.60G>A XP_016867928.1:p.Thr20=
XM_017012440.2:c.126G>A XP_016867929.1:p.Thr42=
XM_017012441.2:c.60G>A XP_016867930.1:p.Thr20=