Canonical Allele Identifier: CA371308023

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777765C>G (hg19) ; chr8:g.60865206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865206C>G , CM000670.2:g.60865206C>G	GRCh38
NC_000008.10:g.61777765C>G , CM000670.1:g.61777765C>G	GRCh37
NC_000008.9:g.61940319C>G	NCBI36
NG_007009.1:g.191427C>G , LRG_176:g.191427C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1443C>G
ENST00000695852.1:n.374C>G
ENST00000695853.1:c.*1326C>G	ENSP00000512218.1:n.*1326C>G
ENST00000423902.7:c.8267C>G MANE Select	ENSP00000392028.1:p.Thr2756Arg
ENST00000423902.6:c.8267C>G	ENSP00000392028.1:p.Thr2756Arg
ENST00000524602.5:c.2120C>G	ENSP00000437061.1:p.Thr707Arg
ENST00000528280.1:n.313C>G
NM_001316690.1:c.2120C>G	NP_001303619.1:p.Thr707Arg
NM_017780.3:c.8267C>G	NP_060250.2:p.Thr2756Arg
XM_011517553.1:c.8357C>G	XP_011515855.1:p.Thr2786Arg
XM_011517554.1:c.8357C>G	XP_011515856.1:p.Thr2786Arg
XM_011517555.1:c.8354C>G	XP_011515857.1:p.Thr2785Arg
XM_011517556.1:c.8135C>G	XP_011515858.1:p.Thr2712Arg
XM_011517557.1:c.6344C>G	XP_011515859.1:p.Thr2115Arg
XM_011517558.1:c.5894C>G	XP_011515860.1:p.Thr1965Arg
XM_011517559.1:c.5102C>G	XP_011515861.1:p.Thr1701Arg
XM_011517553.2:c.8357C>G	XP_011515855.1:p.Thr2786Arg
XM_011517554.3:c.8357C>G	XP_011515856.1:p.Thr2786Arg
XM_011517555.2:c.8354C>G	XP_011515857.1:p.Thr2785Arg
XM_017013612.1:c.8357C>G	XP_016869101.1:p.Thr2786Arg
XM_017013613.1:c.8264C>G	XP_016869102.1:p.Thr2755Arg
NM_017780.4:c.8267C>G MANE Select	NP_060250.2:p.Thr2756Arg