Canonical Allele Identifier: CA1788129210

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865121G= , CM000670.2:g.60865121G=	GRCh38
NC_000008.10:g.61777680G= , CM000670.1:g.61777680G=	GRCh37
NC_000008.9:g.61940234G=	NCBI36
NG_007009.1:g.191342G= , LRG_176:g.191342G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1358G=
ENST00000695852.1:n.289G=
ENST00000695853.1:c.*1241G=	ENSP00000512218.1:n.*1241G=
ENST00000423902.7:c.8182G= MANE Select	ENSP00000392028.1:p.Ala2728=
ENST00000423902.6:c.8182G=	ENSP00000392028.1:p.Ala2728=
ENST00000524602.5:c.2035G=	ENSP00000437061.1:p.Ala679=
ENST00000528280.1:n.228G=
ENST00000532149.1:n.604G=
ENST00000618450.1:n.4218G=
NM_001316690.1:c.2035G=	NP_001303619.1:p.Ala679=
NM_017780.3:c.8182G=	NP_060250.2:p.Ala2728=
XM_011517553.1:c.8272G=	XP_011515855.1:p.Ala2758=
XM_011517554.1:c.8272G=	XP_011515856.1:p.Ala2758=
XM_011517555.1:c.8269G=	XP_011515857.1:p.Ala2757=
XM_011517556.1:c.8050G=	XP_011515858.1:p.Ala2684=
XM_011517557.1:c.6259G=	XP_011515859.1:p.Ala2087=
XM_011517558.1:c.5809G=	XP_011515860.1:p.Ala1937=
XM_011517559.1:c.5017G=	XP_011515861.1:p.Ala1673=
XM_011517553.2:c.8272G=	XP_011515855.1:p.Ala2758=
XM_011517554.3:c.8272G=	XP_011515856.1:p.Ala2758=
XM_011517555.2:c.8269G=	XP_011515857.1:p.Ala2757=
XM_017013612.1:c.8272G=	XP_016869101.1:p.Ala2758=
XM_017013613.1:c.8179G=	XP_016869102.1:p.Ala2727=
NM_017780.4:c.8182G= MANE Select	NP_060250.2:p.Ala2728=