Canonical Allele Identifier: CA371304557

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773579A>T (hg19) ; chr8:g.60861020A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861020A>T , CM000670.2:g.60861020A>T	GRCh38
NC_000008.10:g.61773579A>T , CM000670.1:g.61773579A>T	GRCh37
NC_000008.9:g.61936133A>T	NCBI36
NG_007009.1:g.187241A>T , LRG_176:g.187241A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.901A>T
ENST00000695851.1:n.105A>T
ENST00000695853.1:c.*784A>T	ENSP00000512218.1:n.*784A>T
ENST00000423902.7:c.7725A>T MANE Select	ENSP00000392028.1:p.Glu2575Asp
ENST00000423902.6:c.7725A>T	ENSP00000392028.1:p.Glu2575Asp
ENST00000524602.5:c.1717-1209A>T	ENSP00000437061.1:n.1717-1209A>T
ENST00000531695.1:n.149A>T
ENST00000618450.1:n.117A>T
NM_001316690.1:c.1717-1209A>T	NP_001303619.1:n.1717-1209A>T
NM_017780.3:c.7725A>T	NP_060250.2:p.Glu2575Asp
XM_011517553.1:c.7815A>T	XP_011515855.1:p.Glu2605Asp
XM_011517554.1:c.7815A>T	XP_011515856.1:p.Glu2605Asp
XM_011517555.1:c.7812A>T	XP_011515857.1:p.Glu2604Asp
XM_011517556.1:c.7699-1176A>T	XP_011515858.1:n.7699-1176A>T
XM_011517557.1:c.5802A>T	XP_011515859.1:p.Glu1934Asp
XM_011517558.1:c.5352A>T	XP_011515860.1:p.Glu1784Asp
XM_011517559.1:c.4560A>T	XP_011515861.1:p.Glu1520Asp
XM_011517553.2:c.7815A>T	XP_011515855.1:p.Glu2605Asp
XM_011517554.3:c.7815A>T	XP_011515856.1:p.Glu2605Asp
XM_011517555.2:c.7812A>T	XP_011515857.1:p.Glu2604Asp
XM_017013612.1:c.7815A>T	XP_016869101.1:p.Glu2605Asp
XM_017013613.1:c.7722A>T	XP_016869102.1:p.Glu2574Asp
NM_017780.4:c.7725A>T MANE Select	NP_060250.2:p.Glu2575Asp