Canonical Allele Identifier: CA371307638

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2198967
• ClinVar RCV Id: RCV002634020
• MyVariant Identifiers: chr8:g.61777689G>A (hg19) ; chr8:g.60865130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865130G>A , CM000670.2:g.60865130G>A	GRCh38
NC_000008.10:g.61777689G>A , CM000670.1:g.61777689G>A	GRCh37
NC_000008.9:g.61940243G>A	NCBI36
NG_007009.1:g.191351G>A , LRG_176:g.191351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1367G>A
ENST00000695852.1:n.298G>A
ENST00000695853.1:c.*1250G>A	ENSP00000512218.1:n.*1250G>A
ENST00000423902.7:c.8191G>A MANE Select	ENSP00000392028.1:p.Ala2731Thr
ENST00000423902.6:c.8191G>A	ENSP00000392028.1:p.Ala2731Thr
ENST00000524602.5:c.2044G>A	ENSP00000437061.1:p.Ala682Thr
ENST00000528280.1:n.237G>A
ENST00000532149.1:n.613G>A
NM_001316690.1:c.2044G>A	NP_001303619.1:p.Ala682Thr
NM_017780.3:c.8191G>A	NP_060250.2:p.Ala2731Thr
XM_011517553.1:c.8281G>A	XP_011515855.1:p.Ala2761Thr
XM_011517554.1:c.8281G>A	XP_011515856.1:p.Ala2761Thr
XM_011517555.1:c.8278G>A	XP_011515857.1:p.Ala2760Thr
XM_011517556.1:c.8059G>A	XP_011515858.1:p.Ala2687Thr
XM_011517557.1:c.6268G>A	XP_011515859.1:p.Ala2090Thr
XM_011517558.1:c.5818G>A	XP_011515860.1:p.Ala1940Thr
XM_011517559.1:c.5026G>A	XP_011515861.1:p.Ala1676Thr
XM_011517553.2:c.8281G>A	XP_011515855.1:p.Ala2761Thr
XM_011517554.3:c.8281G>A	XP_011515856.1:p.Ala2761Thr
XM_011517555.2:c.8278G>A	XP_011515857.1:p.Ala2760Thr
XM_017013612.1:c.8281G>A	XP_016869101.1:p.Ala2761Thr
XM_017013613.1:c.8188G>A	XP_016869102.1:p.Ala2730Thr
NM_017780.4:c.8191G>A MANE Select	NP_060250.2:p.Ala2731Thr