Canonical Allele Identifier: CA371304333

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860955-A-G
• MyVariant Identifiers: chr8:g.61773514A>G (hg19) ; chr8:g.60860955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860955A>G , CM000670.2:g.60860955A>G	GRCh38
NC_000008.10:g.61773514A>G , CM000670.1:g.61773514A>G	GRCh37
NC_000008.9:g.61936068A>G	NCBI36
NG_007009.1:g.187176A>G , LRG_176:g.187176A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.836A>G
ENST00000695851.1:n.40A>G
ENST00000695853.1:c.*719A>G	ENSP00000512218.1:n.*719A>G
ENST00000423902.7:c.7660A>G MANE Select	ENSP00000392028.1:p.Thr2554Ala
ENST00000423902.6:c.7660A>G	ENSP00000392028.1:p.Thr2554Ala
ENST00000524602.5:c.1717-1274A>G	ENSP00000437061.1:n.1717-1274A>G
ENST00000531695.1:n.84A>G
ENST00000618450.1:n.52A>G
NM_001316690.1:c.1717-1274A>G	NP_001303619.1:n.1717-1274A>G
NM_017780.3:c.7660A>G	NP_060250.2:p.Thr2554Ala
XM_011517553.1:c.7750A>G	XP_011515855.1:p.Thr2584Ala
XM_011517554.1:c.7750A>G	XP_011515856.1:p.Thr2584Ala
XM_011517555.1:c.7747A>G	XP_011515857.1:p.Thr2583Ala
XM_011517556.1:c.7699-1241A>G	XP_011515858.1:n.7699-1241A>G
XM_011517557.1:c.5737A>G	XP_011515859.1:p.Thr1913Ala
XM_011517558.1:c.5287A>G	XP_011515860.1:p.Thr1763Ala
XM_011517559.1:c.4495A>G	XP_011515861.1:p.Thr1499Ala
XM_011517553.2:c.7750A>G	XP_011515855.1:p.Thr2584Ala
XM_011517554.3:c.7750A>G	XP_011515856.1:p.Thr2584Ala
XM_011517555.2:c.7747A>G	XP_011515857.1:p.Thr2583Ala
XM_017013612.1:c.7750A>G	XP_016869101.1:p.Thr2584Ala
XM_017013613.1:c.7657A>G	XP_016869102.1:p.Thr2553Ala
NM_017780.4:c.7660A>G MANE Select	NP_060250.2:p.Thr2554Ala