Canonical Allele Identifier: CA1788120811

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861010T= , CM000670.2:g.60861010T=	GRCh38
NC_000008.10:g.61773569T= , CM000670.1:g.61773569T=	GRCh37
NC_000008.9:g.61936123T=	NCBI36
NG_007009.1:g.187231T= , LRG_176:g.187231T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.891T=
ENST00000695851.1:n.95T=
ENST00000695853.1:c.*774T=	ENSP00000512218.1:n.*774T=
ENST00000423902.7:c.7715T= MANE Select	ENSP00000392028.1:p.Ile2572=
ENST00000423902.6:c.7715T=	ENSP00000392028.1:p.Ile2572=
ENST00000524602.5:c.1717-1219T=	ENSP00000437061.1:n.1717-1219T=
ENST00000531695.1:n.139T=
ENST00000618450.1:n.107T=
NM_001316690.1:c.1717-1219T=	NP_001303619.1:n.1717-1219T=
NM_017780.3:c.7715T=	NP_060250.2:p.Ile2572=
XM_011517553.1:c.7805T=	XP_011515855.1:p.Ile2602=
XM_011517554.1:c.7805T=	XP_011515856.1:p.Ile2602=
XM_011517555.1:c.7802T=	XP_011515857.1:p.Ile2601=
XM_011517556.1:c.7699-1186T=	XP_011515858.1:n.7699-1186T=
XM_011517557.1:c.5792T=	XP_011515859.1:p.Ile1931=
XM_011517558.1:c.5342T=	XP_011515860.1:p.Ile1781=
XM_011517559.1:c.4550T=	XP_011515861.1:p.Ile1517=
XM_011517553.2:c.7805T=	XP_011515855.1:p.Ile2602=
XM_011517554.3:c.7805T=	XP_011515856.1:p.Ile2602=
XM_011517555.2:c.7802T=	XP_011515857.1:p.Ile2601=
XM_017013612.1:c.7805T=	XP_016869101.1:p.Ile2602=
XM_017013613.1:c.7712T=	XP_016869102.1:p.Ile2571=
NM_017780.4:c.7715T= MANE Select	NP_060250.2:p.Ile2572=