Canonical Allele Identifier: CA1788120911

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861047T= , CM000670.2:g.60861047T=	GRCh38
NC_000008.10:g.61773606T= , CM000670.1:g.61773606T=	GRCh37
NC_000008.9:g.61936160T=	NCBI36
NG_007009.1:g.187268T= , LRG_176:g.187268T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.928T=
ENST00000695851.1:n.132T=
ENST00000695853.1:c.*811T=	ENSP00000512218.1:n.*811T=
ENST00000423902.7:c.7752T= MANE Select	ENSP00000392028.1:p.Asp2584=
ENST00000423902.6:c.7752T=	ENSP00000392028.1:p.Asp2584=
ENST00000524602.5:c.1717-1182T=	ENSP00000437061.1:n.1717-1182T=
ENST00000531695.1:n.176T=
ENST00000618450.1:n.144T=
NM_001316690.1:c.1717-1182T=	NP_001303619.1:n.1717-1182T=
NM_017780.3:c.7752T=	NP_060250.2:p.Asp2584=
XM_011517553.1:c.7842T=	XP_011515855.1:p.Asp2614=
XM_011517554.1:c.7842T=	XP_011515856.1:p.Asp2614=
XM_011517555.1:c.7839T=	XP_011515857.1:p.Asp2613=
XM_011517556.1:c.7699-1149T=	XP_011515858.1:n.7699-1149T=
XM_011517557.1:c.5829T=	XP_011515859.1:p.Asp1943=
XM_011517558.1:c.5379T=	XP_011515860.1:p.Asp1793=
XM_011517559.1:c.4587T=	XP_011515861.1:p.Asp1529=
XM_011517553.2:c.7842T=	XP_011515855.1:p.Asp2614=
XM_011517554.3:c.7842T=	XP_011515856.1:p.Asp2614=
XM_011517555.2:c.7839T=	XP_011515857.1:p.Asp2613=
XM_017013612.1:c.7842T=	XP_016869101.1:p.Asp2614=
XM_017013613.1:c.7749T=	XP_016869102.1:p.Asp2583=
NM_017780.4:c.7752T= MANE Select	NP_060250.2:p.Asp2584=