Canonical Allele Identifier: CA371304577

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773587C>T (hg19) ; chr8:g.60861028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861028C>T , CM000670.2:g.60861028C>T	GRCh38
NC_000008.10:g.61773587C>T , CM000670.1:g.61773587C>T	GRCh37
NC_000008.9:g.61936141C>T	NCBI36
NG_007009.1:g.187249C>T , LRG_176:g.187249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.909C>T
ENST00000695851.1:n.113C>T
ENST00000695853.1:c.*792C>T	ENSP00000512218.1:n.*792C>T
ENST00000423902.7:c.7733C>T MANE Select	ENSP00000392028.1:p.Thr2578Ile
ENST00000423902.6:c.7733C>T	ENSP00000392028.1:p.Thr2578Ile
ENST00000524602.5:c.1717-1201C>T	ENSP00000437061.1:n.1717-1201C>T
ENST00000531695.1:n.157C>T
ENST00000618450.1:n.125C>T
NM_001316690.1:c.1717-1201C>T	NP_001303619.1:n.1717-1201C>T
NM_017780.3:c.7733C>T	NP_060250.2:p.Thr2578Ile
XM_011517553.1:c.7823C>T	XP_011515855.1:p.Thr2608Ile
XM_011517554.1:c.7823C>T	XP_011515856.1:p.Thr2608Ile
XM_011517555.1:c.7820C>T	XP_011515857.1:p.Thr2607Ile
XM_011517556.1:c.7699-1168C>T	XP_011515858.1:n.7699-1168C>T
XM_011517557.1:c.5810C>T	XP_011515859.1:p.Thr1937Ile
XM_011517558.1:c.5360C>T	XP_011515860.1:p.Thr1787Ile
XM_011517559.1:c.4568C>T	XP_011515861.1:p.Thr1523Ile
XM_011517553.2:c.7823C>T	XP_011515855.1:p.Thr2608Ile
XM_011517554.3:c.7823C>T	XP_011515856.1:p.Thr2608Ile
XM_011517555.2:c.7820C>T	XP_011515857.1:p.Thr2607Ile
XM_017013612.1:c.7823C>T	XP_016869101.1:p.Thr2608Ile
XM_017013613.1:c.7730C>T	XP_016869102.1:p.Thr2577Ile
NM_017780.4:c.7733C>T MANE Select	NP_060250.2:p.Thr2578Ile