Canonical Allele Identifier: CA460846391

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1152460
• ClinVar RCV Id: RCV001493770
• dbSNP Id: rs2129702757
• MyVariant Identifiers: chr8:g.61773474G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860915G>A , CM000670.2:g.60860915G>A	GRCh38
NC_000008.10:g.61773474G>A , CM000670.1:g.61773474G>A	GRCh37
NC_000008.9:g.61936028G>A	NCBI36
NG_007009.1:g.187136G>A , LRG_176:g.187136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.796G>A
ENST00000695853.1:c.*679G>A	ENSP00000512218.1:n.*679G>A
ENST00000423902.7:c.7620G>A MANE Select	ENSP00000392028.1:p.Glu2540=
ENST00000423902.6:c.7620G>A	ENSP00000392028.1:p.Glu2540=
ENST00000524602.5:c.1717-1314G>A	ENSP00000437061.1:n.1717-1314G>A
ENST00000531695.1:n.44G>A
ENST00000618450.1:n.12G>A
NM_001316690.1:c.1717-1314G>A	NP_001303619.1:n.1717-1314G>A
NM_017780.3:c.7620G>A	NP_060250.2:p.Glu2540=
XM_011517553.1:c.7710G>A	XP_011515855.1:p.Glu2570=
XM_011517554.1:c.7710G>A	XP_011515856.1:p.Glu2570=
XM_011517555.1:c.7707G>A	XP_011515857.1:p.Glu2569=
XM_011517556.1:c.7699-1281G>A	XP_011515858.1:n.7699-1281G>A
XM_011517557.1:c.5697G>A	XP_011515859.1:p.Glu1899=
XM_011517558.1:c.5247G>A	XP_011515860.1:p.Glu1749=
XM_011517559.1:c.4455G>A	XP_011515861.1:p.Glu1485=
XM_011517553.2:c.7710G>A	XP_011515855.1:p.Glu2570=
XM_011517554.3:c.7710G>A	XP_011515856.1:p.Glu2570=
XM_011517555.2:c.7707G>A	XP_011515857.1:p.Glu2569=
XM_017013612.1:c.7710G>A	XP_016869101.1:p.Glu2570=
XM_017013613.1:c.7617G>A	XP_016869102.1:p.Glu2539=
NM_017780.4:c.7620G>A MANE Select	NP_060250.2:p.Glu2540=