Canonical Allele Identifier: CA1788121004

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861085T= , CM000670.2:g.60861085T=	GRCh38
NC_000008.10:g.61773644T= , CM000670.1:g.61773644T=	GRCh37
NC_000008.9:g.61936198T=	NCBI36
NG_007009.1:g.187306T= , LRG_176:g.187306T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.966T=
ENST00000695851.1:n.170T=
ENST00000695853.1:c.*849T=	ENSP00000512218.1:n.*849T=
ENST00000423902.7:c.7790T= MANE Select	ENSP00000392028.1:p.Leu2597=
ENST00000423902.6:c.7790T=	ENSP00000392028.1:p.Leu2597=
ENST00000524602.5:c.1717-1144T=	ENSP00000437061.1:n.1717-1144T=
ENST00000531695.1:n.214T=
ENST00000618450.1:n.182T=
NM_001316690.1:c.1717-1144T=	NP_001303619.1:n.1717-1144T=
NM_017780.3:c.7790T=	NP_060250.2:p.Leu2597=
XM_011517553.1:c.7880T=	XP_011515855.1:p.Leu2627=
XM_011517554.1:c.7880T=	XP_011515856.1:p.Leu2627=
XM_011517555.1:c.7877T=	XP_011515857.1:p.Leu2626=
XM_011517556.1:c.7699-1111T=	XP_011515858.1:n.7699-1111T=
XM_011517557.1:c.5867T=	XP_011515859.1:p.Leu1956=
XM_011517558.1:c.5417T=	XP_011515860.1:p.Leu1806=
XM_011517559.1:c.4625T=	XP_011515861.1:p.Leu1542=
XM_011517553.2:c.7880T=	XP_011515855.1:p.Leu2627=
XM_011517554.3:c.7880T=	XP_011515856.1:p.Leu2627=
XM_011517555.2:c.7877T=	XP_011515857.1:p.Leu2626=
XM_017013612.1:c.7880T=	XP_016869101.1:p.Leu2627=
XM_017013613.1:c.7787T=	XP_016869102.1:p.Leu2596=
NM_017780.4:c.7790T= MANE Select	NP_060250.2:p.Leu2597=