Canonical Allele Identifier: CA371307498

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777669A>G (hg19) ; chr8:g.60865110A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865110A>G , CM000670.2:g.60865110A>G	GRCh38
NC_000008.10:g.61777669A>G , CM000670.1:g.61777669A>G	GRCh37
NC_000008.9:g.61940223A>G	NCBI36
NG_007009.1:g.191331A>G , LRG_176:g.191331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1347A>G
ENST00000695852.1:n.278A>G
ENST00000695853.1:c.*1230A>G	ENSP00000512218.1:n.*1230A>G
ENST00000423902.7:c.8171A>G MANE Select	ENSP00000392028.1:p.Glu2724Gly
ENST00000423902.6:c.8171A>G	ENSP00000392028.1:p.Glu2724Gly
ENST00000524602.5:c.2024A>G	ENSP00000437061.1:p.Glu675Gly
ENST00000528280.1:n.217A>G
ENST00000532149.1:n.593A>G
ENST00000618450.1:n.4207A>G
NM_001316690.1:c.2024A>G	NP_001303619.1:p.Glu675Gly
NM_017780.3:c.8171A>G	NP_060250.2:p.Glu2724Gly
XM_011517553.1:c.8261A>G	XP_011515855.1:p.Glu2754Gly
XM_011517554.1:c.8261A>G	XP_011515856.1:p.Glu2754Gly
XM_011517555.1:c.8258A>G	XP_011515857.1:p.Glu2753Gly
XM_011517556.1:c.8039A>G	XP_011515858.1:p.Glu2680Gly
XM_011517557.1:c.6248A>G	XP_011515859.1:p.Glu2083Gly
XM_011517558.1:c.5798A>G	XP_011515860.1:p.Glu1933Gly
XM_011517559.1:c.5006A>G	XP_011515861.1:p.Glu1669Gly
XM_011517553.2:c.8261A>G	XP_011515855.1:p.Glu2754Gly
XM_011517554.3:c.8261A>G	XP_011515856.1:p.Glu2754Gly
XM_011517555.2:c.8258A>G	XP_011515857.1:p.Glu2753Gly
XM_017013612.1:c.8261A>G	XP_016869101.1:p.Glu2754Gly
XM_017013613.1:c.8168A>G	XP_016869102.1:p.Glu2723Gly
NM_017780.4:c.8171A>G MANE Select	NP_060250.2:p.Glu2724Gly