Canonical Allele Identifier: CA371304669

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773628G>A (hg19) ; chr8:g.60861069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861069G>A , CM000670.2:g.60861069G>A	GRCh38
NC_000008.10:g.61773628G>A , CM000670.1:g.61773628G>A	GRCh37
NC_000008.9:g.61936182G>A	NCBI36
NG_007009.1:g.187290G>A , LRG_176:g.187290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.950G>A
ENST00000695851.1:n.154G>A
ENST00000695853.1:c.*833G>A	ENSP00000512218.1:n.*833G>A
ENST00000423902.7:c.7774G>A MANE Select	ENSP00000392028.1:p.Val2592Ile
ENST00000423902.6:c.7774G>A	ENSP00000392028.1:p.Val2592Ile
ENST00000524602.5:c.1717-1160G>A	ENSP00000437061.1:n.1717-1160G>A
ENST00000531695.1:n.198G>A
ENST00000618450.1:n.166G>A
NM_001316690.1:c.1717-1160G>A	NP_001303619.1:n.1717-1160G>A
NM_017780.3:c.7774G>A	NP_060250.2:p.Val2592Ile
XM_011517553.1:c.7864G>A	XP_011515855.1:p.Val2622Ile
XM_011517554.1:c.7864G>A	XP_011515856.1:p.Val2622Ile
XM_011517555.1:c.7861G>A	XP_011515857.1:p.Val2621Ile
XM_011517556.1:c.7699-1127G>A	XP_011515858.1:n.7699-1127G>A
XM_011517557.1:c.5851G>A	XP_011515859.1:p.Val1951Ile
XM_011517558.1:c.5401G>A	XP_011515860.1:p.Val1801Ile
XM_011517559.1:c.4609G>A	XP_011515861.1:p.Val1537Ile
XM_011517553.2:c.7864G>A	XP_011515855.1:p.Val2622Ile
XM_011517554.3:c.7864G>A	XP_011515856.1:p.Val2622Ile
XM_011517555.2:c.7861G>A	XP_011515857.1:p.Val2621Ile
XM_017013612.1:c.7864G>A	XP_016869101.1:p.Val2622Ile
XM_017013613.1:c.7771G>A	XP_016869102.1:p.Val2591Ile
NM_017780.4:c.7774G>A MANE Select	NP_060250.2:p.Val2592Ile