Canonical Allele Identifier: CA371304253

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773496G>T (hg19) ; chr8:g.60860937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860937G>T , CM000670.2:g.60860937G>T	GRCh38
NC_000008.10:g.61773496G>T , CM000670.1:g.61773496G>T	GRCh37
NC_000008.9:g.61936050G>T	NCBI36
NG_007009.1:g.187158G>T , LRG_176:g.187158G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.818G>T
ENST00000695851.1:n.22G>T
ENST00000695853.1:c.*701G>T	ENSP00000512218.1:n.*701G>T
ENST00000423902.7:c.7642G>T MANE Select	ENSP00000392028.1:p.Asp2548Tyr
ENST00000423902.6:c.7642G>T	ENSP00000392028.1:p.Asp2548Tyr
ENST00000524602.5:c.1717-1292G>T	ENSP00000437061.1:n.1717-1292G>T
ENST00000531695.1:n.66G>T
ENST00000618450.1:n.34G>T
NM_001316690.1:c.1717-1292G>T	NP_001303619.1:n.1717-1292G>T
NM_017780.3:c.7642G>T	NP_060250.2:p.Asp2548Tyr
XM_011517553.1:c.7732G>T	XP_011515855.1:p.Asp2578Tyr
XM_011517554.1:c.7732G>T	XP_011515856.1:p.Asp2578Tyr
XM_011517555.1:c.7729G>T	XP_011515857.1:p.Asp2577Tyr
XM_011517556.1:c.7699-1259G>T	XP_011515858.1:n.7699-1259G>T
XM_011517557.1:c.5719G>T	XP_011515859.1:p.Asp1907Tyr
XM_011517558.1:c.5269G>T	XP_011515860.1:p.Asp1757Tyr
XM_011517559.1:c.4477G>T	XP_011515861.1:p.Asp1493Tyr
XM_011517553.2:c.7732G>T	XP_011515855.1:p.Asp2578Tyr
XM_011517554.3:c.7732G>T	XP_011515856.1:p.Asp2578Tyr
XM_011517555.2:c.7729G>T	XP_011515857.1:p.Asp2577Tyr
XM_017013612.1:c.7732G>T	XP_016869101.1:p.Asp2578Tyr
XM_017013613.1:c.7639G>T	XP_016869102.1:p.Asp2547Tyr
NM_017780.4:c.7642G>T MANE Select	NP_060250.2:p.Asp2548Tyr