Canonical Allele Identifier: CA1788085613

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743071A= , CM000670.2:g.60743071A=	GRCh38
NC_000008.10:g.61655630A= , CM000670.1:g.61655630A=	GRCh37
NC_000008.9:g.61818184A=	NCBI36
NG_007009.1:g.69292A= , LRG_176:g.69292A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2152A=
ENST00000695849.1:n.2152A=
ENST00000695853.1:c.1639A=	ENSP00000512218.1:p.Thr547=
ENST00000700671.1:c.1639A=	ENSP00000515139.1:p.Thr547=
ENST00000423902.7:c.1639A= MANE Select	ENSP00000392028.1:p.Thr547=
ENST00000423902.6:c.1639A=	ENSP00000392028.1:p.Thr547=
ENST00000524602.5:c.1639A=	ENSP00000437061.1:p.Thr547=
ENST00000525508.1:c.1639A=	ENSP00000436027.1:p.Thr547=
ENST00000527825.1:c.283A=
ENST00000527900.1:c.40A=	ENSP00000433336.1:p.Thr14=
NM_001316690.1:c.1639A=	NP_001303619.1:p.Thr547=
NM_017780.3:c.1639A=	NP_060250.2:p.Thr547=
XM_011517553.1:c.1639A=	XP_011515855.1:p.Thr547=
XM_011517554.1:c.1639A=	XP_011515856.1:p.Thr547=
XM_011517555.1:c.1639A=	XP_011515857.1:p.Thr547=
XM_011517556.1:c.1639A=	XP_011515858.1:p.Thr547=
XM_011517560.1:c.1639A=	XP_011515862.1:p.Thr547=
XM_011517553.2:c.1639A=	XP_011515855.1:p.Thr547=
XM_011517554.3:c.1639A=	XP_011515856.1:p.Thr547=
XM_011517555.2:c.1639A=	XP_011515857.1:p.Thr547=
XM_011517560.2:c.1639A=	XP_011515862.1:p.Thr547=
XM_017013612.1:c.1639A=	XP_016869101.1:p.Thr547=
XM_017013613.1:c.1639A=	XP_016869102.1:p.Thr547=
NM_017780.4:c.1639A= MANE Select	NP_060250.2:p.Thr547=