Canonical Allele Identifier: CA371304416

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773533C>G (hg19) ; chr8:g.60860974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860974C>G , CM000670.2:g.60860974C>G	GRCh38
NC_000008.10:g.61773533C>G , CM000670.1:g.61773533C>G	GRCh37
NC_000008.9:g.61936087C>G	NCBI36
NG_007009.1:g.187195C>G , LRG_176:g.187195C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.855C>G
ENST00000695851.1:n.59C>G
ENST00000695853.1:c.*738C>G	ENSP00000512218.1:n.*738C>G
ENST00000423902.7:c.7679C>G MANE Select	ENSP00000392028.1:p.Pro2560Arg
ENST00000423902.6:c.7679C>G	ENSP00000392028.1:p.Pro2560Arg
ENST00000524602.5:c.1717-1255C>G	ENSP00000437061.1:n.1717-1255C>G
ENST00000531695.1:n.103C>G
ENST00000618450.1:n.71C>G
NM_001316690.1:c.1717-1255C>G	NP_001303619.1:n.1717-1255C>G
NM_017780.3:c.7679C>G	NP_060250.2:p.Pro2560Arg
XM_011517553.1:c.7769C>G	XP_011515855.1:p.Pro2590Arg
XM_011517554.1:c.7769C>G	XP_011515856.1:p.Pro2590Arg
XM_011517555.1:c.7766C>G	XP_011515857.1:p.Pro2589Arg
XM_011517556.1:c.7699-1222C>G	XP_011515858.1:n.7699-1222C>G
XM_011517557.1:c.5756C>G	XP_011515859.1:p.Pro1919Arg
XM_011517558.1:c.5306C>G	XP_011515860.1:p.Pro1769Arg
XM_011517559.1:c.4514C>G	XP_011515861.1:p.Pro1505Arg
XM_011517553.2:c.7769C>G	XP_011515855.1:p.Pro2590Arg
XM_011517554.3:c.7769C>G	XP_011515856.1:p.Pro2590Arg
XM_011517555.2:c.7766C>G	XP_011515857.1:p.Pro2589Arg
XM_017013612.1:c.7769C>G	XP_016869101.1:p.Pro2590Arg
XM_017013613.1:c.7676C>G	XP_016869102.1:p.Pro2559Arg
NM_017780.4:c.7679C>G MANE Select	NP_060250.2:p.Pro2560Arg