Canonical Allele Identifier: CA371304453

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773542T>A (hg19) ; chr8:g.60860983T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860983T>A , CM000670.2:g.60860983T>A	GRCh38
NC_000008.10:g.61773542T>A , CM000670.1:g.61773542T>A	GRCh37
NC_000008.9:g.61936096T>A	NCBI36
NG_007009.1:g.187204T>A , LRG_176:g.187204T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.864T>A
ENST00000695851.1:n.68T>A
ENST00000695853.1:c.*747T>A	ENSP00000512218.1:n.*747T>A
ENST00000423902.7:c.7688T>A MANE Select	ENSP00000392028.1:p.Leu2563Gln
ENST00000423902.6:c.7688T>A	ENSP00000392028.1:p.Leu2563Gln
ENST00000524602.5:c.1717-1246T>A	ENSP00000437061.1:n.1717-1246T>A
ENST00000531695.1:n.112T>A
ENST00000618450.1:n.80T>A
NM_001316690.1:c.1717-1246T>A	NP_001303619.1:n.1717-1246T>A
NM_017780.3:c.7688T>A	NP_060250.2:p.Leu2563Gln
XM_011517553.1:c.7778T>A	XP_011515855.1:p.Leu2593Gln
XM_011517554.1:c.7778T>A	XP_011515856.1:p.Leu2593Gln
XM_011517555.1:c.7775T>A	XP_011515857.1:p.Leu2592Gln
XM_011517556.1:c.7699-1213T>A	XP_011515858.1:n.7699-1213T>A
XM_011517557.1:c.5765T>A	XP_011515859.1:p.Leu1922Gln
XM_011517558.1:c.5315T>A	XP_011515860.1:p.Leu1772Gln
XM_011517559.1:c.4523T>A	XP_011515861.1:p.Leu1508Gln
XM_011517553.2:c.7778T>A	XP_011515855.1:p.Leu2593Gln
XM_011517554.3:c.7778T>A	XP_011515856.1:p.Leu2593Gln
XM_011517555.2:c.7775T>A	XP_011515857.1:p.Leu2592Gln
XM_017013612.1:c.7778T>A	XP_016869101.1:p.Leu2593Gln
XM_017013613.1:c.7685T>A	XP_016869102.1:p.Leu2562Gln
NM_017780.4:c.7688T>A MANE Select	NP_060250.2:p.Leu2563Gln