Canonical Allele Identifier: CA461105727

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777649A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865090A>G , CM000670.2:g.60865090A>G	GRCh38
NC_000008.10:g.61777649A>G , CM000670.1:g.61777649A>G	GRCh37
NC_000008.9:g.61940203A>G	NCBI36
NG_007009.1:g.191311A>G , LRG_176:g.191311A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1327A>G
ENST00000695852.1:n.258A>G
ENST00000695853.1:c.*1210A>G	ENSP00000512218.1:n.*1210A>G
ENST00000423902.7:c.8151A>G MANE Select	ENSP00000392028.1:p.Arg2717=
ENST00000423902.6:c.8151A>G	ENSP00000392028.1:p.Arg2717=
ENST00000524602.5:c.2004A>G	ENSP00000437061.1:p.Arg668=
ENST00000528280.1:n.197A>G
ENST00000532149.1:n.573A>G
ENST00000618450.1:n.4187A>G
NM_001316690.1:c.2004A>G	NP_001303619.1:p.Arg668=
NM_017780.3:c.8151A>G	NP_060250.2:p.Arg2717=
XM_011517553.1:c.8241A>G	XP_011515855.1:p.Arg2747=
XM_011517554.1:c.8241A>G	XP_011515856.1:p.Arg2747=
XM_011517555.1:c.8238A>G	XP_011515857.1:p.Arg2746=
XM_011517556.1:c.8019A>G	XP_011515858.1:p.Arg2673=
XM_011517557.1:c.6228A>G	XP_011515859.1:p.Arg2076=
XM_011517558.1:c.5778A>G	XP_011515860.1:p.Arg1926=
XM_011517559.1:c.4986A>G	XP_011515861.1:p.Arg1662=
XM_011517553.2:c.8241A>G	XP_011515855.1:p.Arg2747=
XM_011517554.3:c.8241A>G	XP_011515856.1:p.Arg2747=
XM_011517555.2:c.8238A>G	XP_011515857.1:p.Arg2746=
XM_017013612.1:c.8241A>G	XP_016869101.1:p.Arg2747=
XM_017013613.1:c.8148A>G	XP_016869102.1:p.Arg2716=
NM_017780.4:c.8151A>G MANE Select	NP_060250.2:p.Arg2717=