Canonical Allele Identifier: CA371299693

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61769005A>G (hg19) ; chr8:g.60856446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60856446A>G , CM000670.2:g.60856446A>G	GRCh38
NC_000008.10:g.61769005A>G , CM000670.1:g.61769005A>G	GRCh37
NC_000008.9:g.61931559A>G	NCBI36
NG_007009.1:g.182667A>G , LRG_176:g.182667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.342A>G
ENST00000695853.1:c.*225A>G	ENSP00000512218.1:n.*225A>G
ENST00000423902.7:c.7166A>G MANE Select	ENSP00000392028.1:p.Glu2389Gly
ENST00000423902.6:c.7166A>G	ENSP00000392028.1:p.Glu2389Gly
ENST00000524602.5:c.1717-5783A>G	ENSP00000437061.1:n.1717-5783A>G
ENST00000529472.1:n.347A>G
NM_001316690.1:c.1717-5783A>G	NP_001303619.1:n.1717-5783A>G
NM_017780.3:c.7166A>G	NP_060250.2:p.Glu2389Gly
XM_011517553.1:c.7256A>G	XP_011515855.1:p.Glu2419Gly
XM_011517554.1:c.7256A>G	XP_011515856.1:p.Glu2419Gly
XM_011517555.1:c.7253A>G	XP_011515857.1:p.Glu2418Gly
XM_011517556.1:c.7256A>G	XP_011515858.1:p.Glu2419Gly
XM_011517557.1:c.5243A>G	XP_011515859.1:p.Glu1748Gly
XM_011517558.1:c.4793A>G	XP_011515860.1:p.Glu1598Gly
XM_011517559.1:c.4001A>G	XP_011515861.1:p.Glu1334Gly
XM_011517553.2:c.7256A>G	XP_011515855.1:p.Glu2419Gly
XM_011517554.3:c.7256A>G	XP_011515856.1:p.Glu2419Gly
XM_011517555.2:c.7253A>G	XP_011515857.1:p.Glu2418Gly
XM_017013612.1:c.7256A>G	XP_016869101.1:p.Glu2419Gly
XM_017013613.1:c.7163A>G	XP_016869102.1:p.Glu2388Gly
NM_017780.4:c.7166A>G MANE Select	NP_060250.2:p.Glu2389Gly