Canonical Allele Identifier: CA1788129380

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865185T= , CM000670.2:g.60865185T=	GRCh38
NC_000008.10:g.61777744T= , CM000670.1:g.61777744T=	GRCh37
NC_000008.9:g.61940298T=	NCBI36
NG_007009.1:g.191406T= , LRG_176:g.191406T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1422T=
ENST00000695852.1:n.353T=
ENST00000695853.1:c.*1305T=	ENSP00000512218.1:n.*1305T=
ENST00000423902.7:c.8246T= MANE Select	ENSP00000392028.1:p.Leu2749=
ENST00000423902.6:c.8246T=	ENSP00000392028.1:p.Leu2749=
ENST00000524602.5:c.2099T=	ENSP00000437061.1:p.Leu700=
ENST00000528280.1:n.292T=
NM_001316690.1:c.2099T=	NP_001303619.1:p.Leu700=
NM_017780.3:c.8246T=	NP_060250.2:p.Leu2749=
XM_011517553.1:c.8336T=	XP_011515855.1:p.Leu2779=
XM_011517554.1:c.8336T=	XP_011515856.1:p.Leu2779=
XM_011517555.1:c.8333T=	XP_011515857.1:p.Leu2778=
XM_011517556.1:c.8114T=	XP_011515858.1:p.Leu2705=
XM_011517557.1:c.6323T=	XP_011515859.1:p.Leu2108=
XM_011517558.1:c.5873T=	XP_011515860.1:p.Leu1958=
XM_011517559.1:c.5081T=	XP_011515861.1:p.Leu1694=
XM_011517553.2:c.8336T=	XP_011515855.1:p.Leu2779=
XM_011517554.3:c.8336T=	XP_011515856.1:p.Leu2779=
XM_011517555.2:c.8333T=	XP_011515857.1:p.Leu2778=
XM_017013612.1:c.8336T=	XP_016869101.1:p.Leu2779=
XM_017013613.1:c.8243T=	XP_016869102.1:p.Leu2748=
NM_017780.4:c.8246T= MANE Select	NP_060250.2:p.Leu2749=