Canonical Allele Identifier: CA1788130448

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865447G= , CM000670.2:g.60865447G=	GRCh38
NC_000008.10:g.61778006G= , CM000670.1:g.61778006G=	GRCh37
NC_000008.9:g.61940560G=	NCBI36
NG_007009.1:g.191668G= , LRG_176:g.191668G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1684G=
ENST00000695852.1:n.615G=
ENST00000695853.1:c.*1567G=	ENSP00000512218.1:n.*1567G=
ENST00000423902.7:c.8508G= MANE Select	ENSP00000392028.1:p.Pro2836=
ENST00000423902.6:c.8508G=	ENSP00000392028.1:p.Pro2836=
ENST00000524602.5:c.2361G=	ENSP00000437061.1:p.Pro787=
ENST00000528280.1:n.554G=
NM_001316690.1:c.2361G=	NP_001303619.1:p.Pro787=
NM_017780.3:c.8508G=	NP_060250.2:p.Pro2836=
XM_011517553.1:c.8598G=	XP_011515855.1:p.Pro2866=
XM_011517554.1:c.8598G=	XP_011515856.1:p.Pro2866=
XM_011517555.1:c.8595G=	XP_011515857.1:p.Pro2865=
XM_011517556.1:c.8376G=	XP_011515858.1:p.Pro2792=
XM_011517557.1:c.6585G=	XP_011515859.1:p.Pro2195=
XM_011517558.1:c.6135G=	XP_011515860.1:p.Pro2045=
XM_011517559.1:c.5343G=	XP_011515861.1:p.Pro1781=
XM_011517553.2:c.8598G=	XP_011515855.1:p.Pro2866=
XM_011517554.3:c.8598G=	XP_011515856.1:p.Pro2866=
XM_011517555.2:c.8595G=	XP_011515857.1:p.Pro2865=
XM_017013612.1:c.8598G=	XP_016869101.1:p.Pro2866=
XM_017013613.1:c.8505G=	XP_016869102.1:p.Pro2835=
NM_017780.4:c.8508G= MANE Select	NP_060250.2:p.Pro2836=