Canonical Allele Identifier: CA371304546

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773574C>G (hg19) ; chr8:g.60861015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861015C>G , CM000670.2:g.60861015C>G	GRCh38
NC_000008.10:g.61773574C>G , CM000670.1:g.61773574C>G	GRCh37
NC_000008.9:g.61936128C>G	NCBI36
NG_007009.1:g.187236C>G , LRG_176:g.187236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.896C>G
ENST00000695851.1:n.100C>G
ENST00000695853.1:c.*779C>G	ENSP00000512218.1:n.*779C>G
ENST00000423902.7:c.7720C>G MANE Select	ENSP00000392028.1:p.Leu2574Val
ENST00000423902.6:c.7720C>G	ENSP00000392028.1:p.Leu2574Val
ENST00000524602.5:c.1717-1214C>G	ENSP00000437061.1:n.1717-1214C>G
ENST00000531695.1:n.144C>G
ENST00000618450.1:n.112C>G
NM_001316690.1:c.1717-1214C>G	NP_001303619.1:n.1717-1214C>G
NM_017780.3:c.7720C>G	NP_060250.2:p.Leu2574Val
XM_011517553.1:c.7810C>G	XP_011515855.1:p.Leu2604Val
XM_011517554.1:c.7810C>G	XP_011515856.1:p.Leu2604Val
XM_011517555.1:c.7807C>G	XP_011515857.1:p.Leu2603Val
XM_011517556.1:c.7699-1181C>G	XP_011515858.1:n.7699-1181C>G
XM_011517557.1:c.5797C>G	XP_011515859.1:p.Leu1933Val
XM_011517558.1:c.5347C>G	XP_011515860.1:p.Leu1783Val
XM_011517559.1:c.4555C>G	XP_011515861.1:p.Leu1519Val
XM_011517553.2:c.7810C>G	XP_011515855.1:p.Leu2604Val
XM_011517554.3:c.7810C>G	XP_011515856.1:p.Leu2604Val
XM_011517555.2:c.7807C>G	XP_011515857.1:p.Leu2603Val
XM_017013612.1:c.7810C>G	XP_016869101.1:p.Leu2604Val
XM_017013613.1:c.7717C>G	XP_016869102.1:p.Leu2573Val
NM_017780.4:c.7720C>G MANE Select	NP_060250.2:p.Leu2574Val