Canonical Allele Identifier: CA461105811

Gene: CHD7

Linked Data

• COSMIC: COSM6233235
• MyVariant Identifiers: chr8:g.61777703G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865144G>T , CM000670.2:g.60865144G>T	GRCh38
NC_000008.10:g.61777703G>T , CM000670.1:g.61777703G>T	GRCh37
NC_000008.9:g.61940257G>T	NCBI36
NG_007009.1:g.191365G>T , LRG_176:g.191365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1381G>T
ENST00000695852.1:n.312G>T
ENST00000695853.1:c.*1264G>T	ENSP00000512218.1:n.*1264G>T
ENST00000423902.7:c.8205G>T MANE Select	ENSP00000392028.1:p.Val2735=
ENST00000423902.6:c.8205G>T	ENSP00000392028.1:p.Val2735=
ENST00000524602.5:c.2058G>T	ENSP00000437061.1:p.Val686=
ENST00000528280.1:n.251G>T
NM_001316690.1:c.2058G>T	NP_001303619.1:p.Val686=
NM_017780.3:c.8205G>T	NP_060250.2:p.Val2735=
XM_011517553.1:c.8295G>T	XP_011515855.1:p.Val2765=
XM_011517554.1:c.8295G>T	XP_011515856.1:p.Val2765=
XM_011517555.1:c.8292G>T	XP_011515857.1:p.Val2764=
XM_011517556.1:c.8073G>T	XP_011515858.1:p.Val2691=
XM_011517557.1:c.6282G>T	XP_011515859.1:p.Val2094=
XM_011517558.1:c.5832G>T	XP_011515860.1:p.Val1944=
XM_011517559.1:c.5040G>T	XP_011515861.1:p.Val1680=
XM_011517553.2:c.8295G>T	XP_011515855.1:p.Val2765=
XM_011517554.3:c.8295G>T	XP_011515856.1:p.Val2765=
XM_011517555.2:c.8292G>T	XP_011515857.1:p.Val2764=
XM_017013612.1:c.8295G>T	XP_016869101.1:p.Val2765=
XM_017013613.1:c.8202G>T	XP_016869102.1:p.Val2734=
NM_017780.4:c.8205G>T MANE Select	NP_060250.2:p.Val2735=