Canonical Allele Identifier: CA461105325

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61769036G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856477G>A , CM000670.2:g.60856477G>A	GRCh38
NC_000008.10:g.61769036G>A , CM000670.1:g.61769036G>A	GRCh37
NC_000008.9:g.61931590G>A	NCBI36
NG_007009.1:g.182698G>A , LRG_176:g.182698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.373G>A
ENST00000695853.1:c.*256G>A	ENSP00000512218.1:n.*256G>A
ENST00000423902.7:c.7197G>A MANE Select	ENSP00000392028.1:p.Gln2399=
ENST00000423902.6:c.7197G>A	ENSP00000392028.1:p.Gln2399=
ENST00000524602.5:c.1717-5752G>A	ENSP00000437061.1:n.1717-5752G>A
ENST00000529472.1:n.378G>A
NM_001316690.1:c.1717-5752G>A	NP_001303619.1:n.1717-5752G>A
NM_017780.3:c.7197G>A	NP_060250.2:p.Gln2399=
XM_011517553.1:c.7287G>A	XP_011515855.1:p.Gln2429=
XM_011517554.1:c.7287G>A	XP_011515856.1:p.Gln2429=
XM_011517555.1:c.7284G>A	XP_011515857.1:p.Gln2428=
XM_011517556.1:c.7287G>A	XP_011515858.1:p.Gln2429=
XM_011517557.1:c.5274G>A	XP_011515859.1:p.Gln1758=
XM_011517558.1:c.4824G>A	XP_011515860.1:p.Gln1608=
XM_011517559.1:c.4032G>A	XP_011515861.1:p.Gln1344=
XM_011517553.2:c.7287G>A	XP_011515855.1:p.Gln2429=
XM_011517554.3:c.7287G>A	XP_011515856.1:p.Gln2429=
XM_011517555.2:c.7284G>A	XP_011515857.1:p.Gln2428=
XM_017013612.1:c.7287G>A	XP_016869101.1:p.Gln2429=
XM_017013613.1:c.7194G>A	XP_016869102.1:p.Gln2398=
NM_017780.4:c.7197G>A MANE Select	NP_060250.2:p.Gln2399=