Canonical Allele Identifier: CA461105839

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777727T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865168T>G , CM000670.2:g.60865168T>G	GRCh38
NC_000008.10:g.61777727T>G , CM000670.1:g.61777727T>G	GRCh37
NC_000008.9:g.61940281T>G	NCBI36
NG_007009.1:g.191389T>G , LRG_176:g.191389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1405T>G
ENST00000695852.1:n.336T>G
ENST00000695853.1:c.*1288T>G	ENSP00000512218.1:n.*1288T>G
ENST00000423902.7:c.8229T>G MANE Select	ENSP00000392028.1:p.Pro2743=
ENST00000423902.6:c.8229T>G	ENSP00000392028.1:p.Pro2743=
ENST00000524602.5:c.2082T>G	ENSP00000437061.1:p.Pro694=
ENST00000528280.1:n.275T>G
NM_001316690.1:c.2082T>G	NP_001303619.1:p.Pro694=
NM_017780.3:c.8229T>G	NP_060250.2:p.Pro2743=
XM_011517553.1:c.8319T>G	XP_011515855.1:p.Pro2773=
XM_011517554.1:c.8319T>G	XP_011515856.1:p.Pro2773=
XM_011517555.1:c.8316T>G	XP_011515857.1:p.Pro2772=
XM_011517556.1:c.8097T>G	XP_011515858.1:p.Pro2699=
XM_011517557.1:c.6306T>G	XP_011515859.1:p.Pro2102=
XM_011517558.1:c.5856T>G	XP_011515860.1:p.Pro1952=
XM_011517559.1:c.5064T>G	XP_011515861.1:p.Pro1688=
XM_011517553.2:c.8319T>G	XP_011515855.1:p.Pro2773=
XM_011517554.3:c.8319T>G	XP_011515856.1:p.Pro2773=
XM_011517555.2:c.8316T>G	XP_011515857.1:p.Pro2772=
XM_017013612.1:c.8319T>G	XP_016869101.1:p.Pro2773=
XM_017013613.1:c.8226T>G	XP_016869102.1:p.Pro2742=
NM_017780.4:c.8229T>G MANE Select	NP_060250.2:p.Pro2743=