Canonical Allele Identifier: CA891843170

Gene: CHD7

Linked Data

• ClinVar Variation Id: 579768
• ClinVar RCV Id: RCV000703134
• dbSNP Id: rs1563607193
• MyVariant Identifiers: chr8:g.61707677_61707678insCC (hg19) ; chr8:g.60795118_60795119insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60795118_60795119insCC , CM000670.2:g.60795118_60795119insCC	GRCh38
NC_000008.10:g.61707677_61707678insCC , CM000670.1:g.61707677_61707678insCC	GRCh37
NC_000008.9:g.61870231_61870232insCC	NCBI36
NG_007009.1:g.121339_121340insCC , LRG_176:g.121339_121340insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2742_2743insCC
ENST00000695849.1:n.2742_2743insCC
ENST00000695853.1:c.2229_2230insCC	ENSP00000512218.1:p.Gly744ProfsTer12
ENST00000423902.7:c.2229_2230insCC MANE Select	ENSP00000392028.1:p.Gly744ProfsTer12
ENST00000423902.6:c.2229_2230insCC	ENSP00000392028.1:p.Gly744ProfsTer12
ENST00000524602.5:c.1716+14068_1716+14069insCC	ENSP00000437061.1:n.1716+14068_1716+14069insCC
ENST00000525508.1:c.2229_2230insCC	ENSP00000436027.1:p.Gly744ProfsTer12
ENST00000527900.1:c.250_251insCC	ENSP00000433336.1:n.250_251insCC
NM_001316690.1:c.1716+14068_1716+14069insCC	NP_001303619.1:n.1716+14068_1716+14069insCC
NM_017780.3:c.2229_2230insCC	NP_060250.2:p.Gly744ProfsTer12
XM_011517553.1:c.2229_2230insCC	XP_011515855.1:p.Gly744ProfsTer12
XM_011517554.1:c.2229_2230insCC	XP_011515856.1:p.Gly744ProfsTer12
XM_011517555.1:c.2229_2230insCC	XP_011515857.1:p.Gly744ProfsTer12
XM_011517556.1:c.2229_2230insCC	XP_011515858.1:p.Gly744ProfsTer12
XM_011517557.1:c.216_217insCC	XP_011515859.1:p.Gly73ProfsTer12
XM_011517560.1:c.2229_2230insCC	XP_011515862.1:p.Gly744ProfsTer12
XM_011517553.2:c.2229_2230insCC	XP_011515855.1:p.Gly744ProfsTer12
XM_011517554.3:c.2229_2230insCC	XP_011515856.1:p.Gly744ProfsTer12
XM_011517555.2:c.2229_2230insCC	XP_011515857.1:p.Gly744ProfsTer12
XM_011517560.2:c.2229_2230insCC	XP_011515862.1:p.Gly744ProfsTer12
XM_017013612.1:c.2229_2230insCC	XP_016869101.1:p.Gly744ProfsTer12
XM_017013613.1:c.2229_2230insCC	XP_016869102.1:p.Gly744ProfsTer12
NM_017780.4:c.2229_2230insCC MANE Select	NP_060250.2:p.Gly744ProfsTer12