Canonical Allele Identifier: CA915945712

Gene: CHD7

Linked Data

• ClinVar Variation Id: 818066
• ClinVar RCV Id: RCV001009310
• dbSNP Id: rs1586352770

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60801540dup , CM000670.2:g.60801540dup	GRCh38
NC_000008.10:g.61714099dup , CM000670.1:g.61714099dup	GRCh37
NC_000008.9:g.61876653dup	NCBI36
NG_007009.1:g.127761dup , LRG_176:g.127761dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.2902dup
ENST00000695849.1:n.2902dup
ENST00000695853.1:c.2389dup	ENSP00000512218.1:p.Ala797GlyfsTer28
ENST00000423902.7:c.2389dup MANE Select	ENSP00000392028.1:p.Ala797GlyfsTer28
ENST00000423902.6:c.2389dup	ENSP00000392028.1:p.Ala797GlyfsTer28
ENST00000524602.5:c.1716+20490dup	ENSP00000437061.1:n.1716+20490dup
ENST00000525508.1:c.2389dup	ENSP00000436027.1:p.Ala797GlyfsTer28
NM_001316690.1:c.1716+20490dup	NP_001303619.1:n.1716+20490dup
NM_017780.3:c.2389dup	NP_060250.2:p.Ala797GlyfsTer28
XM_011517553.1:c.2389dup	XP_011515855.1:p.Ala797GlyfsTer28
XM_011517554.1:c.2389dup	XP_011515856.1:p.Ala797GlyfsTer28
XM_011517555.1:c.2389dup	XP_011515857.1:p.Ala797GlyfsTer28
XM_011517556.1:c.2389dup	XP_011515858.1:p.Ala797GlyfsTer28
XM_011517557.1:c.376dup	XP_011515859.1:p.Ala126GlyfsTer28
XM_011517560.1:c.2389dup	XP_011515862.1:p.Ala797GlyfsTer28
XR_928948.1:n.201-2282dup
XM_011517553.2:c.2389dup	XP_011515855.1:p.Ala797GlyfsTer28
XM_011517554.3:c.2389dup	XP_011515856.1:p.Ala797GlyfsTer28
XM_011517555.2:c.2389dup	XP_011515857.1:p.Ala797GlyfsTer28
XM_011517560.2:c.2389dup	XP_011515862.1:p.Ala797GlyfsTer28
XM_017013612.1:c.2389dup	XP_016869101.1:p.Ala797GlyfsTer28
XM_017013613.1:c.2389dup	XP_016869102.1:p.Ala797GlyfsTer28
NM_017780.4:c.2389dup MANE Select	NP_060250.2:p.Ala797GlyfsTer28