Canonical Allele Identifier: CA371304247

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773494A>T (hg19) ; chr8:g.60860935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860935A>T , CM000670.2:g.60860935A>T	GRCh38
NC_000008.10:g.61773494A>T , CM000670.1:g.61773494A>T	GRCh37
NC_000008.9:g.61936048A>T	NCBI36
NG_007009.1:g.187156A>T , LRG_176:g.187156A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.816A>T
ENST00000695851.1:n.20A>T
ENST00000695853.1:c.*699A>T	ENSP00000512218.1:n.*699A>T
ENST00000423902.7:c.7640A>T MANE Select	ENSP00000392028.1:p.Glu2547Val
ENST00000423902.6:c.7640A>T	ENSP00000392028.1:p.Glu2547Val
ENST00000524602.5:c.1717-1294A>T	ENSP00000437061.1:n.1717-1294A>T
ENST00000531695.1:n.64A>T
ENST00000618450.1:n.32A>T
NM_001316690.1:c.1717-1294A>T	NP_001303619.1:n.1717-1294A>T
NM_017780.3:c.7640A>T	NP_060250.2:p.Glu2547Val
XM_011517553.1:c.7730A>T	XP_011515855.1:p.Glu2577Val
XM_011517554.1:c.7730A>T	XP_011515856.1:p.Glu2577Val
XM_011517555.1:c.7727A>T	XP_011515857.1:p.Glu2576Val
XM_011517556.1:c.7699-1261A>T	XP_011515858.1:n.7699-1261A>T
XM_011517557.1:c.5717A>T	XP_011515859.1:p.Glu1906Val
XM_011517558.1:c.5267A>T	XP_011515860.1:p.Glu1756Val
XM_011517559.1:c.4475A>T	XP_011515861.1:p.Glu1492Val
XM_011517553.2:c.7730A>T	XP_011515855.1:p.Glu2577Val
XM_011517554.3:c.7730A>T	XP_011515856.1:p.Glu2577Val
XM_011517555.2:c.7727A>T	XP_011515857.1:p.Glu2576Val
XM_017013612.1:c.7730A>T	XP_016869101.1:p.Glu2577Val
XM_017013613.1:c.7637A>T	XP_016869102.1:p.Glu2546Val
NM_017780.4:c.7640A>T MANE Select	NP_060250.2:p.Glu2547Val