Canonical Allele Identifier: CA1788129396

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865190G= , CM000670.2:g.60865190G=	GRCh38
NC_000008.10:g.61777749G= , CM000670.1:g.61777749G=	GRCh37
NC_000008.9:g.61940303G=	NCBI36
NG_007009.1:g.191411G= , LRG_176:g.191411G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1427G=
ENST00000695852.1:n.358G=
ENST00000695853.1:c.*1310G=	ENSP00000512218.1:n.*1310G=
ENST00000423902.7:c.8251G= MANE Select	ENSP00000392028.1:p.Ala2751=
ENST00000423902.6:c.8251G=	ENSP00000392028.1:p.Ala2751=
ENST00000524602.5:c.2104G=	ENSP00000437061.1:p.Ala702=
ENST00000528280.1:n.297G=
NM_001316690.1:c.2104G=	NP_001303619.1:p.Ala702=
NM_017780.3:c.8251G=	NP_060250.2:p.Ala2751=
XM_011517553.1:c.8341G=	XP_011515855.1:p.Ala2781=
XM_011517554.1:c.8341G=	XP_011515856.1:p.Ala2781=
XM_011517555.1:c.8338G=	XP_011515857.1:p.Ala2780=
XM_011517556.1:c.8119G=	XP_011515858.1:p.Ala2707=
XM_011517557.1:c.6328G=	XP_011515859.1:p.Ala2110=
XM_011517558.1:c.5878G=	XP_011515860.1:p.Ala1960=
XM_011517559.1:c.5086G=	XP_011515861.1:p.Ala1696=
XM_011517553.2:c.8341G=	XP_011515855.1:p.Ala2781=
XM_011517554.3:c.8341G=	XP_011515856.1:p.Ala2781=
XM_011517555.2:c.8338G=	XP_011515857.1:p.Ala2780=
XM_017013612.1:c.8341G=	XP_016869101.1:p.Ala2781=
XM_017013613.1:c.8248G=	XP_016869102.1:p.Ala2750=
NM_017780.4:c.8251G= MANE Select	NP_060250.2:p.Ala2751=