Canonical Allele Identifier: CA1788101667

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852679T= , CM000670.2:g.60852679T=	GRCh38
NC_000008.10:g.61765238T= , CM000670.1:g.61765238T=	GRCh37
NC_000008.9:g.61927792T=	NCBI36
NG_007009.1:g.178900T= , LRG_176:g.178900T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6076T=	ENSP00000512218.1:p.Cys2026=
ENST00000423902.7:c.6076T= MANE Select	ENSP00000392028.1:p.Cys2026=
ENST00000423902.6:c.6076T=	ENSP00000392028.1:p.Cys2026=
ENST00000524602.5:c.1717-9550T=	ENSP00000437061.1:n.1717-9550T=
NM_001316690.1:c.1717-9550T=	NP_001303619.1:n.1717-9550T=
NM_017780.3:c.6076T=	NP_060250.2:p.Cys2026=
XM_011517553.1:c.6166T=	XP_011515855.1:p.Cys2056=
XM_011517554.1:c.6166T=	XP_011515856.1:p.Cys2056=
XM_011517555.1:c.6166T=	XP_011515857.1:p.Cys2056=
XM_011517556.1:c.6166T=	XP_011515858.1:p.Cys2056=
XM_011517557.1:c.4153T=	XP_011515859.1:p.Cys1385=
XM_011517558.1:c.3703T=	XP_011515860.1:p.Cys1235=
XM_011517559.1:c.2911T=	XP_011515861.1:p.Cys971=
XM_011517553.2:c.6166T=	XP_011515855.1:p.Cys2056=
XM_011517554.3:c.6166T=	XP_011515856.1:p.Cys2056=
XM_011517555.2:c.6166T=	XP_011515857.1:p.Cys2056=
XM_017013612.1:c.6166T=	XP_016869101.1:p.Cys2056=
XM_017013613.1:c.6076T=	XP_016869102.1:p.Cys2026=
NM_017780.4:c.6076T= MANE Select	NP_060250.2:p.Cys2026=