Canonical Allele Identifier: CA2695201477

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2637067
• ClinVar RCV Id: RCV003403033

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60836113_60836114del , CM000670.2:g.60836113_60836114del	GRCh38
NC_000008.10:g.61748672_61748673del , CM000670.1:g.61748672_61748673del	GRCh37
NC_000008.9:g.61911226_61911227del	NCBI36
NG_007009.1:g.162334_162335del , LRG_176:g.162334_162335del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.3819_3820del	ENSP00000512218.1:p.His1273GlnfsTer23
ENST00000423902.7:c.3819_3820del MANE Select	ENSP00000392028.1:p.His1273GlnfsTer23
ENST00000423902.6:c.3819_3820del	ENSP00000392028.1:p.His1273GlnfsTer23
ENST00000524602.5:c.1717-26116_1717-26115del	ENSP00000437061.1:n.1717-26116_1717-26115...
NM_001316690.1:c.1717-26116_1717-26115del	NP_001303619.1:n.1717-26116_1717-26115del...
NM_017780.3:c.3819_3820del	NP_060250.2:p.His1273GlnfsTer23
XM_011517553.1:c.3819_3820del	XP_011515855.1:p.His1273GlnfsTer23
XM_011517554.1:c.3819_3820del	XP_011515856.1:p.His1273GlnfsTer23
XM_011517555.1:c.3819_3820del	XP_011515857.1:p.His1273GlnfsTer23
XM_011517556.1:c.3819_3820del	XP_011515858.1:p.His1273GlnfsTer23
XM_011517557.1:c.1806_1807del	XP_011515859.1:p.His602GlnfsTer23
XM_011517558.1:c.1356_1357del	XP_011515860.1:p.His452GlnfsTer23
XM_011517559.1:c.564_565del	XP_011515861.1:p.His188GlnfsTer23
XM_011517560.1:c.3819_3820del	XP_011515862.1:p.His1273GlnfsTer23
XM_011517553.2:c.3819_3820del	XP_011515855.1:p.His1273GlnfsTer23
XM_011517554.3:c.3819_3820del	XP_011515856.1:p.His1273GlnfsTer23
XM_011517555.2:c.3819_3820del	XP_011515857.1:p.His1273GlnfsTer23
XM_011517560.2:c.3819_3820del	XP_011515862.1:p.His1273GlnfsTer23
XM_017013612.1:c.3819_3820del	XP_016869101.1:p.His1273GlnfsTer23
XM_017013613.1:c.3819_3820del	XP_016869102.1:p.His1273GlnfsTer23
NM_017780.4:c.3819_3820del MANE Select	NP_060250.2:p.His1273GlnfsTer23