Canonical Allele Identifier: CA371304418

Gene: CHD7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.855C>T
ENST00000695851.1:n.59C>T
ENST00000695853.1:c.*738C>T	ENSP00000512218.1:n.*738C>T
ENST00000423902.7:c.7679C>T MANE Select	ENSP00000392028.1:p.Pro2560Leu
ENST00000423902.6:c.7679C>T	ENSP00000392028.1:p.Pro2560Leu
ENST00000524602.5:c.1717-1255C>T	ENSP00000437061.1:n.1717-1255C>T
ENST00000531695.1:n.103C>T
ENST00000618450.1:n.71C>T
NM_001316690.1:c.1717-1255C>T	NP_001303619.1:n.1717-1255C>T
NM_017780.3:c.7679C>T	NP_060250.2:p.Pro2560Leu
XM_011517553.1:c.7769C>T	XP_011515855.1:p.Pro2590Leu
XM_011517554.1:c.7769C>T	XP_011515856.1:p.Pro2590Leu
XM_011517555.1:c.7766C>T	XP_011515857.1:p.Pro2589Leu
XM_011517556.1:c.7699-1222C>T	XP_011515858.1:n.7699-1222C>T
XM_011517557.1:c.5756C>T	XP_011515859.1:p.Pro1919Leu
XM_011517558.1:c.5306C>T	XP_011515860.1:p.Pro1769Leu
XM_011517559.1:c.4514C>T	XP_011515861.1:p.Pro1505Leu
XM_011517553.2:c.7769C>T	XP_011515855.1:p.Pro2590Leu
XM_011517554.3:c.7769C>T	XP_011515856.1:p.Pro2590Leu
XM_011517555.2:c.7766C>T	XP_011515857.1:p.Pro2589Leu
XM_017013612.1:c.7769C>T	XP_016869101.1:p.Pro2590Leu
XM_017013613.1:c.7676C>T	XP_016869102.1:p.Pro2559Leu
NM_017780.4:c.7679C>T MANE Select	NP_060250.2:p.Pro2560Leu