Canonical Allele Identifier: CA371309279

Gene: CHD7

Linked Data

• dbSNP Id: rs1806196935
• MyVariant Identifiers: chr8:g.61777927T>G (hg19) ; chr8:g.60865368T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865368T>G , CM000670.2:g.60865368T>G	GRCh38
NC_000008.10:g.61777927T>G , CM000670.1:g.61777927T>G	GRCh37
NC_000008.9:g.61940481T>G	NCBI36
NG_007009.1:g.191589T>G , LRG_176:g.191589T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1605T>G
ENST00000695852.1:n.536T>G
ENST00000695853.1:c.*1488T>G	ENSP00000512218.1:n.*1488T>G
ENST00000423902.7:c.8429T>G MANE Select	ENSP00000392028.1:p.Phe2810Cys
ENST00000423902.6:c.8429T>G	ENSP00000392028.1:p.Phe2810Cys
ENST00000524602.5:c.2282T>G	ENSP00000437061.1:p.Phe761Cys
ENST00000528280.1:n.475T>G
NM_001316690.1:c.2282T>G	NP_001303619.1:p.Phe761Cys
NM_017780.3:c.8429T>G	NP_060250.2:p.Phe2810Cys
XM_011517553.1:c.8519T>G	XP_011515855.1:p.Phe2840Cys
XM_011517554.1:c.8519T>G	XP_011515856.1:p.Phe2840Cys
XM_011517555.1:c.8516T>G	XP_011515857.1:p.Phe2839Cys
XM_011517556.1:c.8297T>G	XP_011515858.1:p.Phe2766Cys
XM_011517557.1:c.6506T>G	XP_011515859.1:p.Phe2169Cys
XM_011517558.1:c.6056T>G	XP_011515860.1:p.Phe2019Cys
XM_011517559.1:c.5264T>G	XP_011515861.1:p.Phe1755Cys
XM_011517553.2:c.8519T>G	XP_011515855.1:p.Phe2840Cys
XM_011517554.3:c.8519T>G	XP_011515856.1:p.Phe2840Cys
XM_011517555.2:c.8516T>G	XP_011515857.1:p.Phe2839Cys
XM_017013612.1:c.8519T>G	XP_016869101.1:p.Phe2840Cys
XM_017013613.1:c.8426T>G	XP_016869102.1:p.Phe2809Cys
NM_017780.4:c.8429T>G MANE Select	NP_060250.2:p.Phe2810Cys