Canonical Allele Identifier: CA371312379

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865773G>A , CM000670.2:g.60865773G>A	GRCh38
NC_000008.10:g.61778332G>A , CM000670.1:g.61778332G>A	GRCh37
NC_000008.9:g.61940886G>A	NCBI36
NG_007009.1:g.191994G>A , LRG_176:g.191994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.2010G>A
ENST00000695852.1:n.941G>A
ENST00000695853.1:c.*1893G>A	ENSP00000512218.1:n.*1893G>A
ENST00000423902.7:c.8834G>A MANE Select	ENSP00000392028.1:p.Gly2945Glu
ENST00000423902.6:c.8834G>A	ENSP00000392028.1:p.Gly2945Glu
ENST00000524602.5:c.2687G>A	ENSP00000437061.1:p.Gly896Glu
NM_001316690.1:c.2687G>A	NP_001303619.1:p.Gly896Glu
NM_017780.3:c.8834G>A	NP_060250.2:p.Gly2945Glu
XM_011517553.1:c.8924G>A	XP_011515855.1:p.Gly2975Glu
XM_011517554.1:c.8924G>A	XP_011515856.1:p.Gly2975Glu
XM_011517555.1:c.8921G>A	XP_011515857.1:p.Gly2974Glu
XM_011517556.1:c.8702G>A	XP_011515858.1:p.Gly2901Glu
XM_011517557.1:c.6911G>A	XP_011515859.1:p.Gly2304Glu
XM_011517558.1:c.6461G>A	XP_011515860.1:p.Gly2154Glu
XM_011517559.1:c.5669G>A	XP_011515861.1:p.Gly1890Glu
XM_011517553.2:c.8924G>A	XP_011515855.1:p.Gly2975Glu
XM_011517554.3:c.8924G>A	XP_011515856.1:p.Gly2975Glu
XM_011517555.2:c.8921G>A	XP_011515857.1:p.Gly2974Glu
XM_017013612.1:c.8924G>A	XP_016869101.1:p.Gly2975Glu
XM_017013613.1:c.8831G>A	XP_016869102.1:p.Gly2944Glu
NM_017780.4:c.8834G>A MANE Select	NP_060250.2:p.Gly2945Glu