Canonical Allele Identifier: CA371304547

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773574C>T (hg19) ; chr8:g.60861015C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861015C>T , CM000670.2:g.60861015C>T	GRCh38
NC_000008.10:g.61773574C>T , CM000670.1:g.61773574C>T	GRCh37
NC_000008.9:g.61936128C>T	NCBI36
NG_007009.1:g.187236C>T , LRG_176:g.187236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.896C>T
ENST00000695851.1:n.100C>T
ENST00000695853.1:c.*779C>T	ENSP00000512218.1:n.*779C>T
ENST00000423902.7:c.7720C>T MANE Select	ENSP00000392028.1:p.Leu2574Phe
ENST00000423902.6:c.7720C>T	ENSP00000392028.1:p.Leu2574Phe
ENST00000524602.5:c.1717-1214C>T	ENSP00000437061.1:n.1717-1214C>T
ENST00000531695.1:n.144C>T
ENST00000618450.1:n.112C>T
NM_001316690.1:c.1717-1214C>T	NP_001303619.1:n.1717-1214C>T
NM_017780.3:c.7720C>T	NP_060250.2:p.Leu2574Phe
XM_011517553.1:c.7810C>T	XP_011515855.1:p.Leu2604Phe
XM_011517554.1:c.7810C>T	XP_011515856.1:p.Leu2604Phe
XM_011517555.1:c.7807C>T	XP_011515857.1:p.Leu2603Phe
XM_011517556.1:c.7699-1181C>T	XP_011515858.1:n.7699-1181C>T
XM_011517557.1:c.5797C>T	XP_011515859.1:p.Leu1933Phe
XM_011517558.1:c.5347C>T	XP_011515860.1:p.Leu1783Phe
XM_011517559.1:c.4555C>T	XP_011515861.1:p.Leu1519Phe
XM_011517553.2:c.7810C>T	XP_011515855.1:p.Leu2604Phe
XM_011517554.3:c.7810C>T	XP_011515856.1:p.Leu2604Phe
XM_011517555.2:c.7807C>T	XP_011515857.1:p.Leu2603Phe
XM_017013612.1:c.7810C>T	XP_016869101.1:p.Leu2604Phe
XM_017013613.1:c.7717C>T	XP_016869102.1:p.Leu2573Phe
NM_017780.4:c.7720C>T MANE Select	NP_060250.2:p.Leu2574Phe