Canonical Allele Identifier: CA1788129514

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865220C= , CM000670.2:g.60865220C=	GRCh38
NC_000008.10:g.61777779C= , CM000670.1:g.61777779C=	GRCh37
NC_000008.9:g.61940333C=	NCBI36
NG_007009.1:g.191441C= , LRG_176:g.191441C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1457C=
ENST00000695852.1:n.388C=
ENST00000695853.1:c.*1340C=	ENSP00000512218.1:n.*1340C=
ENST00000423902.7:c.8281C= MANE Select	ENSP00000392028.1:p.Leu2761=
ENST00000423902.6:c.8281C=	ENSP00000392028.1:p.Leu2761=
ENST00000524602.5:c.2134C=	ENSP00000437061.1:p.Leu712=
ENST00000528280.1:n.327C=
NM_001316690.1:c.2134C=	NP_001303619.1:p.Leu712=
NM_017780.3:c.8281C=	NP_060250.2:p.Leu2761=
XM_011517553.1:c.8371C=	XP_011515855.1:p.Leu2791=
XM_011517554.1:c.8371C=	XP_011515856.1:p.Leu2791=
XM_011517555.1:c.8368C=	XP_011515857.1:p.Leu2790=
XM_011517556.1:c.8149C=	XP_011515858.1:p.Leu2717=
XM_011517557.1:c.6358C=	XP_011515859.1:p.Leu2120=
XM_011517558.1:c.5908C=	XP_011515860.1:p.Leu1970=
XM_011517559.1:c.5116C=	XP_011515861.1:p.Leu1706=
XM_011517553.2:c.8371C=	XP_011515855.1:p.Leu2791=
XM_011517554.3:c.8371C=	XP_011515856.1:p.Leu2791=
XM_011517555.2:c.8368C=	XP_011515857.1:p.Leu2790=
XM_017013612.1:c.8371C=	XP_016869101.1:p.Leu2791=
XM_017013613.1:c.8278C=	XP_016869102.1:p.Leu2760=
NM_017780.4:c.8281C= MANE Select	NP_060250.2:p.Leu2761=