Canonical Allele Identifier: CA371309076

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1487954
• ClinVar RCV Id: RCV002008964
• dbSNP Id: rs759567393
• MyVariant Identifiers: chr8:g.61777911G>T (hg19) ; chr8:g.60865352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865352G>T , CM000670.2:g.60865352G>T	GRCh38
NC_000008.10:g.61777911G>T , CM000670.1:g.61777911G>T	GRCh37
NC_000008.9:g.61940465G>T	NCBI36
NG_007009.1:g.191573G>T , LRG_176:g.191573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1589G>T
ENST00000695852.1:n.520G>T
ENST00000695853.1:c.*1472G>T	ENSP00000512218.1:n.*1472G>T
ENST00000423902.7:c.8413G>T MANE Select	ENSP00000392028.1:p.Gly2805Cys
ENST00000423902.6:c.8413G>T	ENSP00000392028.1:p.Gly2805Cys
ENST00000524602.5:c.2266G>T	ENSP00000437061.1:p.Gly756Cys
ENST00000528280.1:n.459G>T
NM_001316690.1:c.2266G>T	NP_001303619.1:p.Gly756Cys
NM_017780.3:c.8413G>T	NP_060250.2:p.Gly2805Cys
XM_011517553.1:c.8503G>T	XP_011515855.1:p.Gly2835Cys
XM_011517554.1:c.8503G>T	XP_011515856.1:p.Gly2835Cys
XM_011517555.1:c.8500G>T	XP_011515857.1:p.Gly2834Cys
XM_011517556.1:c.8281G>T	XP_011515858.1:p.Gly2761Cys
XM_011517557.1:c.6490G>T	XP_011515859.1:p.Gly2164Cys
XM_011517558.1:c.6040G>T	XP_011515860.1:p.Gly2014Cys
XM_011517559.1:c.5248G>T	XP_011515861.1:p.Gly1750Cys
XM_011517553.2:c.8503G>T	XP_011515855.1:p.Gly2835Cys
XM_011517554.3:c.8503G>T	XP_011515856.1:p.Gly2835Cys
XM_011517555.2:c.8500G>T	XP_011515857.1:p.Gly2834Cys
XM_017013612.1:c.8503G>T	XP_016869101.1:p.Gly2835Cys
XM_017013613.1:c.8410G>T	XP_016869102.1:p.Gly2804Cys
NM_017780.4:c.8413G>T MANE Select	NP_060250.2:p.Gly2805Cys