Canonical Allele Identifier: CA461105349

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856100G>A , CM000670.2:g.60856100G>A	GRCh38
NC_000008.10:g.61768659G>A , CM000670.1:g.61768659G>A	GRCh37
NC_000008.9:g.61931213G>A	NCBI36
NG_007009.1:g.182321G>A , LRG_176:g.182321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.238G>A
ENST00000695853.1:c.*121G>A	ENSP00000512218.1:n.*121G>A
ENST00000423902.7:c.7062G>A MANE Select	ENSP00000392028.1:p.Val2354=
ENST00000423902.6:c.7062G>A	ENSP00000392028.1:p.Val2354=
ENST00000524602.5:c.1717-6129G>A	ENSP00000437061.1:n.1717-6129G>A
ENST00000529472.1:n.243G>A
NM_001316690.1:c.1717-6129G>A	NP_001303619.1:n.1717-6129G>A
NM_017780.3:c.7062G>A	NP_060250.2:p.Val2354=
XM_011517553.1:c.7152G>A	XP_011515855.1:p.Val2384=
XM_011517554.1:c.7152G>A	XP_011515856.1:p.Val2384=
XM_011517555.1:c.7149G>A	XP_011515857.1:p.Val2383=
XM_011517556.1:c.7152G>A	XP_011515858.1:p.Val2384=
XM_011517557.1:c.5139G>A	XP_011515859.1:p.Val1713=
XM_011517558.1:c.4689G>A	XP_011515860.1:p.Val1563=
XM_011517559.1:c.3897G>A	XP_011515861.1:p.Val1299=
XM_011517553.2:c.7152G>A	XP_011515855.1:p.Val2384=
XM_011517554.3:c.7152G>A	XP_011515856.1:p.Val2384=
XM_011517555.2:c.7149G>A	XP_011515857.1:p.Val2383=
XM_017013612.1:c.7152G>A	XP_016869101.1:p.Val2384=
XM_017013613.1:c.7059G>A	XP_016869102.1:p.Val2353=
NM_017780.4:c.7062G>A MANE Select	NP_060250.2:p.Val2354=