Canonical Allele Identifier: CA177329172

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1709028
• ClinVar RCV Id: RCV002288312
• dbSNP Id: rs757725468
• gnomAD v4: 8-60865121-G-A
• MyVariant Identifiers: chr8:g.61777680G>A (hg19) ; chr8:g.60865121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865121G>A , CM000670.2:g.60865121G>A	GRCh38
NC_000008.10:g.61777680G>A , CM000670.1:g.61777680G>A	GRCh37
NC_000008.9:g.61940234G>A	NCBI36
NG_007009.1:g.191342G>A , LRG_176:g.191342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1358G>A
ENST00000695852.1:n.289G>A
ENST00000695853.1:c.*1241G>A	ENSP00000512218.1:n.*1241G>A
ENST00000423902.7:c.8182G>A MANE Select	ENSP00000392028.1:p.Ala2728Thr
ENST00000423902.6:c.8182G>A	ENSP00000392028.1:p.Ala2728Thr
ENST00000524602.5:c.2035G>A	ENSP00000437061.1:p.Ala679Thr
ENST00000528280.1:n.228G>A
ENST00000532149.1:n.604G>A
ENST00000618450.1:n.4218G>A
NM_001316690.1:c.2035G>A	NP_001303619.1:p.Ala679Thr
NM_017780.3:c.8182G>A	NP_060250.2:p.Ala2728Thr
XM_011517553.1:c.8272G>A	XP_011515855.1:p.Ala2758Thr
XM_011517554.1:c.8272G>A	XP_011515856.1:p.Ala2758Thr
XM_011517555.1:c.8269G>A	XP_011515857.1:p.Ala2757Thr
XM_011517556.1:c.8050G>A	XP_011515858.1:p.Ala2684Thr
XM_011517557.1:c.6259G>A	XP_011515859.1:p.Ala2087Thr
XM_011517558.1:c.5809G>A	XP_011515860.1:p.Ala1937Thr
XM_011517559.1:c.5017G>A	XP_011515861.1:p.Ala1673Thr
XM_011517553.2:c.8272G>A	XP_011515855.1:p.Ala2758Thr
XM_011517554.3:c.8272G>A	XP_011515856.1:p.Ala2758Thr
XM_011517555.2:c.8269G>A	XP_011515857.1:p.Ala2757Thr
XM_017013612.1:c.8272G>A	XP_016869101.1:p.Ala2758Thr
XM_017013613.1:c.8179G>A	XP_016869102.1:p.Ala2727Thr
NM_017780.4:c.8182G>A MANE Select	NP_060250.2:p.Ala2728Thr