Canonical Allele Identifier: CA371304573

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773586A>G (hg19) ; chr8:g.60861027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861027A>G , CM000670.2:g.60861027A>G	GRCh38
NC_000008.10:g.61773586A>G , CM000670.1:g.61773586A>G	GRCh37
NC_000008.9:g.61936140A>G	NCBI36
NG_007009.1:g.187248A>G , LRG_176:g.187248A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.908A>G
ENST00000695851.1:n.112A>G
ENST00000695853.1:c.*791A>G	ENSP00000512218.1:n.*791A>G
ENST00000423902.7:c.7732A>G MANE Select	ENSP00000392028.1:p.Thr2578Ala
ENST00000423902.6:c.7732A>G	ENSP00000392028.1:p.Thr2578Ala
ENST00000524602.5:c.1717-1202A>G	ENSP00000437061.1:n.1717-1202A>G
ENST00000531695.1:n.156A>G
ENST00000618450.1:n.124A>G
NM_001316690.1:c.1717-1202A>G	NP_001303619.1:n.1717-1202A>G
NM_017780.3:c.7732A>G	NP_060250.2:p.Thr2578Ala
XM_011517553.1:c.7822A>G	XP_011515855.1:p.Thr2608Ala
XM_011517554.1:c.7822A>G	XP_011515856.1:p.Thr2608Ala
XM_011517555.1:c.7819A>G	XP_011515857.1:p.Thr2607Ala
XM_011517556.1:c.7699-1169A>G	XP_011515858.1:n.7699-1169A>G
XM_011517557.1:c.5809A>G	XP_011515859.1:p.Thr1937Ala
XM_011517558.1:c.5359A>G	XP_011515860.1:p.Thr1787Ala
XM_011517559.1:c.4567A>G	XP_011515861.1:p.Thr1523Ala
XM_011517553.2:c.7822A>G	XP_011515855.1:p.Thr2608Ala
XM_011517554.3:c.7822A>G	XP_011515856.1:p.Thr2608Ala
XM_011517555.2:c.7819A>G	XP_011515857.1:p.Thr2607Ala
XM_017013612.1:c.7822A>G	XP_016869101.1:p.Thr2608Ala
XM_017013613.1:c.7729A>G	XP_016869102.1:p.Thr2577Ala
NM_017780.4:c.7732A>G MANE Select	NP_060250.2:p.Thr2578Ala