Canonical Allele Identifier: CA460846521

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773588T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861029T>A , CM000670.2:g.60861029T>A	GRCh38
NC_000008.10:g.61773588T>A , CM000670.1:g.61773588T>A	GRCh37
NC_000008.9:g.61936142T>A	NCBI36
NG_007009.1:g.187250T>A , LRG_176:g.187250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.910T>A
ENST00000695851.1:n.114T>A
ENST00000695853.1:c.*793T>A	ENSP00000512218.1:n.*793T>A
ENST00000423902.7:c.7734T>A MANE Select	ENSP00000392028.1:p.Thr2578=
ENST00000423902.6:c.7734T>A	ENSP00000392028.1:p.Thr2578=
ENST00000524602.5:c.1717-1200T>A	ENSP00000437061.1:n.1717-1200T>A
ENST00000531695.1:n.158T>A
ENST00000618450.1:n.126T>A
NM_001316690.1:c.1717-1200T>A	NP_001303619.1:n.1717-1200T>A
NM_017780.3:c.7734T>A	NP_060250.2:p.Thr2578=
XM_011517553.1:c.7824T>A	XP_011515855.1:p.Thr2608=
XM_011517554.1:c.7824T>A	XP_011515856.1:p.Thr2608=
XM_011517555.1:c.7821T>A	XP_011515857.1:p.Thr2607=
XM_011517556.1:c.7699-1167T>A	XP_011515858.1:n.7699-1167T>A
XM_011517557.1:c.5811T>A	XP_011515859.1:p.Thr1937=
XM_011517558.1:c.5361T>A	XP_011515860.1:p.Thr1787=
XM_011517559.1:c.4569T>A	XP_011515861.1:p.Thr1523=
XM_011517553.2:c.7824T>A	XP_011515855.1:p.Thr2608=
XM_011517554.3:c.7824T>A	XP_011515856.1:p.Thr2608=
XM_011517555.2:c.7821T>A	XP_011515857.1:p.Thr2607=
XM_017013612.1:c.7824T>A	XP_016869101.1:p.Thr2608=
XM_017013613.1:c.7731T>A	XP_016869102.1:p.Thr2577=
NM_017780.4:c.7734T>A MANE Select	NP_060250.2:p.Thr2578=