Canonical Allele Identifier: CA371304572

Gene: CHD7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.908A>T
ENST00000695851.1:n.112A>T
ENST00000695853.1:c.*791A>T	ENSP00000512218.1:n.*791A>T
ENST00000423902.7:c.7732A>T MANE Select	ENSP00000392028.1:p.Thr2578Ser
ENST00000423902.6:c.7732A>T	ENSP00000392028.1:p.Thr2578Ser
ENST00000524602.5:c.1717-1202A>T	ENSP00000437061.1:n.1717-1202A>T
ENST00000531695.1:n.156A>T
ENST00000618450.1:n.124A>T
NM_001316690.1:c.1717-1202A>T	NP_001303619.1:n.1717-1202A>T
NM_017780.3:c.7732A>T	NP_060250.2:p.Thr2578Ser
XM_011517553.1:c.7822A>T	XP_011515855.1:p.Thr2608Ser
XM_011517554.1:c.7822A>T	XP_011515856.1:p.Thr2608Ser
XM_011517555.1:c.7819A>T	XP_011515857.1:p.Thr2607Ser
XM_011517556.1:c.7699-1169A>T	XP_011515858.1:n.7699-1169A>T
XM_011517557.1:c.5809A>T	XP_011515859.1:p.Thr1937Ser
XM_011517558.1:c.5359A>T	XP_011515860.1:p.Thr1787Ser
XM_011517559.1:c.4567A>T	XP_011515861.1:p.Thr1523Ser
XM_011517553.2:c.7822A>T	XP_011515855.1:p.Thr2608Ser
XM_011517554.3:c.7822A>T	XP_011515856.1:p.Thr2608Ser
XM_011517555.2:c.7819A>T	XP_011515857.1:p.Thr2607Ser
XM_017013612.1:c.7822A>T	XP_016869101.1:p.Thr2608Ser
XM_017013613.1:c.7729A>T	XP_016869102.1:p.Thr2577Ser
NM_017780.4:c.7732A>T MANE Select	NP_060250.2:p.Thr2578Ser