Canonical Allele Identifier: CA4760967

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1409097
• ClinVar RCV Id: RCV001913464 ; RCV003401870 ; RCV003334058 ; RCV004042827
• dbSNP Id: rs370231679
• ExAC: 8:61777695 G / A
• gnomAD v2: 8-61777695-G-A
• gnomAD v3: 8-60865136-G-A
• gnomAD v4: 8-60865136-G-A
• MyVariant Identifiers: chr8:g.61777695G>A (hg19) ; chr8:g.60865136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865136G>A , CM000670.2:g.60865136G>A	GRCh38
NC_000008.10:g.61777695G>A , CM000670.1:g.61777695G>A	GRCh37
NC_000008.9:g.61940249G>A	NCBI36
NG_007009.1:g.191357G>A , LRG_176:g.191357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1373G>A
ENST00000695852.1:n.304G>A
ENST00000695853.1:c.*1256G>A	ENSP00000512218.1:n.*1256G>A
ENST00000423902.7:c.8197G>A MANE Select	ENSP00000392028.1:p.Ala2733Thr
ENST00000423902.6:c.8197G>A	ENSP00000392028.1:p.Ala2733Thr
ENST00000524602.5:c.2050G>A	ENSP00000437061.1:p.Ala684Thr
ENST00000528280.1:n.243G>A
NM_001316690.1:c.2050G>A	NP_001303619.1:p.Ala684Thr
NM_017780.3:c.8197G>A	NP_060250.2:p.Ala2733Thr
XM_011517553.1:c.8287G>A	XP_011515855.1:p.Ala2763Thr
XM_011517554.1:c.8287G>A	XP_011515856.1:p.Ala2763Thr
XM_011517555.1:c.8284G>A	XP_011515857.1:p.Ala2762Thr
XM_011517556.1:c.8065G>A	XP_011515858.1:p.Ala2689Thr
XM_011517557.1:c.6274G>A	XP_011515859.1:p.Ala2092Thr
XM_011517558.1:c.5824G>A	XP_011515860.1:p.Ala1942Thr
XM_011517559.1:c.5032G>A	XP_011515861.1:p.Ala1678Thr
XM_011517553.2:c.8287G>A	XP_011515855.1:p.Ala2763Thr
XM_011517554.3:c.8287G>A	XP_011515856.1:p.Ala2763Thr
XM_011517555.2:c.8284G>A	XP_011515857.1:p.Ala2762Thr
XM_017013612.1:c.8287G>A	XP_016869101.1:p.Ala2763Thr
XM_017013613.1:c.8194G>A	XP_016869102.1:p.Ala2732Thr
NM_017780.4:c.8197G>A MANE Select	NP_060250.2:p.Ala2733Thr