Canonical Allele Identifier: CA1788129164

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865107G= , CM000670.2:g.60865107G=	GRCh38
NC_000008.10:g.61777666G= , CM000670.1:g.61777666G=	GRCh37
NC_000008.9:g.61940220G=	NCBI36
NG_007009.1:g.191328G= , LRG_176:g.191328G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1344G=
ENST00000695852.1:n.275G=
ENST00000695853.1:c.*1227G=	ENSP00000512218.1:n.*1227G=
ENST00000423902.7:c.8168G= MANE Select	ENSP00000392028.1:p.Ser2723=
ENST00000423902.6:c.8168G=	ENSP00000392028.1:p.Ser2723=
ENST00000524602.5:c.2021G=	ENSP00000437061.1:p.Ser674=
ENST00000528280.1:n.214G=
ENST00000532149.1:n.590G=
ENST00000618450.1:n.4204G=
NM_001316690.1:c.2021G=	NP_001303619.1:p.Ser674=
NM_017780.3:c.8168G=	NP_060250.2:p.Ser2723=
XM_011517553.1:c.8258G=	XP_011515855.1:p.Ser2753=
XM_011517554.1:c.8258G=	XP_011515856.1:p.Ser2753=
XM_011517555.1:c.8255G=	XP_011515857.1:p.Ser2752=
XM_011517556.1:c.8036G=	XP_011515858.1:p.Ser2679=
XM_011517557.1:c.6245G=	XP_011515859.1:p.Ser2082=
XM_011517558.1:c.5795G=	XP_011515860.1:p.Ser1932=
XM_011517559.1:c.5003G=	XP_011515861.1:p.Ser1668=
XM_011517553.2:c.8258G=	XP_011515855.1:p.Ser2753=
XM_011517554.3:c.8258G=	XP_011515856.1:p.Ser2753=
XM_011517555.2:c.8255G=	XP_011515857.1:p.Ser2752=
XM_017013612.1:c.8258G=	XP_016869101.1:p.Ser2753=
XM_017013613.1:c.8165G=	XP_016869102.1:p.Ser2722=
NM_017780.4:c.8168G= MANE Select	NP_060250.2:p.Ser2723=