Canonical Allele Identifier: CA371304529

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1058678
• ClinVar RCV Id: RCV001367844
• dbSNP Id: rs2129704568
• MyVariant Identifiers: chr8:g.61773565G>A (hg19) ; chr8:g.60861006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861006G>A , CM000670.2:g.60861006G>A	GRCh38
NC_000008.10:g.61773565G>A , CM000670.1:g.61773565G>A	GRCh37
NC_000008.9:g.61936119G>A	NCBI36
NG_007009.1:g.187227G>A , LRG_176:g.187227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.887G>A
ENST00000695851.1:n.91G>A
ENST00000695853.1:c.*770G>A	ENSP00000512218.1:n.*770G>A
ENST00000423902.7:c.7711G>A MANE Select	ENSP00000392028.1:p.Val2571Ile
ENST00000423902.6:c.7711G>A	ENSP00000392028.1:p.Val2571Ile
ENST00000524602.5:c.1717-1223G>A	ENSP00000437061.1:n.1717-1223G>A
ENST00000531695.1:n.135G>A
ENST00000618450.1:n.103G>A
NM_001316690.1:c.1717-1223G>A	NP_001303619.1:n.1717-1223G>A
NM_017780.3:c.7711G>A	NP_060250.2:p.Val2571Ile
XM_011517553.1:c.7801G>A	XP_011515855.1:p.Val2601Ile
XM_011517554.1:c.7801G>A	XP_011515856.1:p.Val2601Ile
XM_011517555.1:c.7798G>A	XP_011515857.1:p.Val2600Ile
XM_011517556.1:c.7699-1190G>A	XP_011515858.1:n.7699-1190G>A
XM_011517557.1:c.5788G>A	XP_011515859.1:p.Val1930Ile
XM_011517558.1:c.5338G>A	XP_011515860.1:p.Val1780Ile
XM_011517559.1:c.4546G>A	XP_011515861.1:p.Val1516Ile
XM_011517553.2:c.7801G>A	XP_011515855.1:p.Val2601Ile
XM_011517554.3:c.7801G>A	XP_011515856.1:p.Val2601Ile
XM_011517555.2:c.7798G>A	XP_011515857.1:p.Val2600Ile
XM_017013612.1:c.7801G>A	XP_016869101.1:p.Val2601Ile
XM_017013613.1:c.7708G>A	XP_016869102.1:p.Val2570Ile
NM_017780.4:c.7711G>A MANE Select	NP_060250.2:p.Val2571Ile