Canonical Allele Identifier: CA371321226

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1478899
• ClinVar RCV Id: RCV001974402
• dbSNP Id: rs1233584524
• gnomAD v2: 8-61761676-A-T
• gnomAD v3: 8-60849117-A-T
• gnomAD v4: 8-60849117-A-T
• MyVariant Identifiers: chr8:g.61761676A>T (hg19) ; chr8:g.60849117A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849117A>T , CM000670.2:g.60849117A>T	GRCh38
NC_000008.10:g.61761676A>T , CM000670.1:g.61761676A>T	GRCh37
NC_000008.9:g.61924230A>T	NCBI36
NG_007009.1:g.175338A>T , LRG_176:g.175338A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5367A>T	ENSP00000512218.1:p.Glu1789Asp
ENST00000423902.7:c.5367A>T MANE Select	ENSP00000392028.1:p.Glu1789Asp
ENST00000423902.6:c.5367A>T	ENSP00000392028.1:p.Glu1789Asp
ENST00000524602.5:c.1717-13112A>T	ENSP00000437061.1:n.1717-13112A>T
NM_001316690.1:c.1717-13112A>T	NP_001303619.1:n.1717-13112A>T
NM_017780.3:c.5367A>T	NP_060250.2:p.Glu1789Asp
XM_011517553.1:c.5457A>T	XP_011515855.1:p.Glu1819Asp
XM_011517554.1:c.5457A>T	XP_011515856.1:p.Glu1819Asp
XM_011517555.1:c.5457A>T	XP_011515857.1:p.Glu1819Asp
XM_011517556.1:c.5457A>T	XP_011515858.1:p.Glu1819Asp
XM_011517557.1:c.3444A>T	XP_011515859.1:p.Glu1148Asp
XM_011517558.1:c.2994A>T	XP_011515860.1:p.Glu998Asp
XM_011517559.1:c.2202A>T	XP_011515861.1:p.Glu734Asp
XM_011517553.2:c.5457A>T	XP_011515855.1:p.Glu1819Asp
XM_011517554.3:c.5457A>T	XP_011515856.1:p.Glu1819Asp
XM_011517555.2:c.5457A>T	XP_011515857.1:p.Glu1819Asp
XM_017013612.1:c.5457A>T	XP_016869101.1:p.Glu1819Asp
XM_017013613.1:c.5367A>T	XP_016869102.1:p.Glu1789Asp
NM_017780.4:c.5367A>T MANE Select	NP_060250.2:p.Glu1789Asp