Canonical Allele Identifier: CA4760969

Gene: CHD7

Linked Data

• ClinVar Variation Id: 699308
• ClinVar RCV Id: RCV001858543
• dbSNP Id: rs199570256
• ExAC: 8:61777712 G / A
• gnomAD v2: 8-61777712-G-A
• gnomAD v3: 8-60865153-G-A
• gnomAD v4: 8-60865153-G-A
• COSMIC: COSM6455964
• MyVariant Identifiers: chr8:g.61777712G>A (hg19) ; chr8:g.60865153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865153G>A , CM000670.2:g.60865153G>A	GRCh38
NC_000008.10:g.61777712G>A , CM000670.1:g.61777712G>A	GRCh37
NC_000008.9:g.61940266G>A	NCBI36
NG_007009.1:g.191374G>A , LRG_176:g.191374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1390G>A
ENST00000695852.1:n.321G>A
ENST00000695853.1:c.*1273G>A	ENSP00000512218.1:n.*1273G>A
ENST00000423902.7:c.8214G>A MANE Select	ENSP00000392028.1:p.Thr2738=
ENST00000423902.6:c.8214G>A	ENSP00000392028.1:p.Thr2738=
ENST00000524602.5:c.2067G>A	ENSP00000437061.1:p.Thr689=
ENST00000528280.1:n.260G>A
NM_001316690.1:c.2067G>A	NP_001303619.1:p.Thr689=
NM_017780.3:c.8214G>A	NP_060250.2:p.Thr2738=
XM_011517553.1:c.8304G>A	XP_011515855.1:p.Thr2768=
XM_011517554.1:c.8304G>A	XP_011515856.1:p.Thr2768=
XM_011517555.1:c.8301G>A	XP_011515857.1:p.Thr2767=
XM_011517556.1:c.8082G>A	XP_011515858.1:p.Thr2694=
XM_011517557.1:c.6291G>A	XP_011515859.1:p.Thr2097=
XM_011517558.1:c.5841G>A	XP_011515860.1:p.Thr1947=
XM_011517559.1:c.5049G>A	XP_011515861.1:p.Thr1683=
XM_011517553.2:c.8304G>A	XP_011515855.1:p.Thr2768=
XM_011517554.3:c.8304G>A	XP_011515856.1:p.Thr2768=
XM_011517555.2:c.8301G>A	XP_011515857.1:p.Thr2767=
XM_017013612.1:c.8304G>A	XP_016869101.1:p.Thr2768=
XM_017013613.1:c.8211G>A	XP_016869102.1:p.Thr2737=
NM_017780.4:c.8214G>A MANE Select	NP_060250.2:p.Thr2738=