Canonical Allele Identifier: CA1788129376

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865183C= , CM000670.2:g.60865183C=	GRCh38
NC_000008.10:g.61777742C= , CM000670.1:g.61777742C=	GRCh37
NC_000008.9:g.61940296C=	NCBI36
NG_007009.1:g.191404C= , LRG_176:g.191404C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1420C=
ENST00000695852.1:n.351C=
ENST00000695853.1:c.*1303C=	ENSP00000512218.1:n.*1303C=
ENST00000423902.7:c.8244C= MANE Select	ENSP00000392028.1:p.Ser2748=
ENST00000423902.6:c.8244C=	ENSP00000392028.1:p.Ser2748=
ENST00000524602.5:c.2097C=	ENSP00000437061.1:p.Ser699=
ENST00000528280.1:n.290C=
NM_001316690.1:c.2097C=	NP_001303619.1:p.Ser699=
NM_017780.3:c.8244C=	NP_060250.2:p.Ser2748=
XM_011517553.1:c.8334C=	XP_011515855.1:p.Ser2778=
XM_011517554.1:c.8334C=	XP_011515856.1:p.Ser2778=
XM_011517555.1:c.8331C=	XP_011515857.1:p.Ser2777=
XM_011517556.1:c.8112C=	XP_011515858.1:p.Ser2704=
XM_011517557.1:c.6321C=	XP_011515859.1:p.Ser2107=
XM_011517558.1:c.5871C=	XP_011515860.1:p.Ser1957=
XM_011517559.1:c.5079C=	XP_011515861.1:p.Ser1693=
XM_011517553.2:c.8334C=	XP_011515855.1:p.Ser2778=
XM_011517554.3:c.8334C=	XP_011515856.1:p.Ser2778=
XM_011517555.2:c.8331C=	XP_011515857.1:p.Ser2777=
XM_017013612.1:c.8334C=	XP_016869101.1:p.Ser2778=
XM_017013613.1:c.8241C=	XP_016869102.1:p.Ser2747=
NM_017780.4:c.8244C= MANE Select	NP_060250.2:p.Ser2748=