Canonical Allele Identifier: CA371304542

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773572A>T (hg19) ; chr8:g.60861013A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861013A>T , CM000670.2:g.60861013A>T	GRCh38
NC_000008.10:g.61773572A>T , CM000670.1:g.61773572A>T	GRCh37
NC_000008.9:g.61936126A>T	NCBI36
NG_007009.1:g.187234A>T , LRG_176:g.187234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.894A>T
ENST00000695851.1:n.98A>T
ENST00000695853.1:c.*777A>T	ENSP00000512218.1:n.*777A>T
ENST00000423902.7:c.7718A>T MANE Select	ENSP00000392028.1:p.Asn2573Ile
ENST00000423902.6:c.7718A>T	ENSP00000392028.1:p.Asn2573Ile
ENST00000524602.5:c.1717-1216A>T	ENSP00000437061.1:n.1717-1216A>T
ENST00000531695.1:n.142A>T
ENST00000618450.1:n.110A>T
NM_001316690.1:c.1717-1216A>T	NP_001303619.1:n.1717-1216A>T
NM_017780.3:c.7718A>T	NP_060250.2:p.Asn2573Ile
XM_011517553.1:c.7808A>T	XP_011515855.1:p.Asn2603Ile
XM_011517554.1:c.7808A>T	XP_011515856.1:p.Asn2603Ile
XM_011517555.1:c.7805A>T	XP_011515857.1:p.Asn2602Ile
XM_011517556.1:c.7699-1183A>T	XP_011515858.1:n.7699-1183A>T
XM_011517557.1:c.5795A>T	XP_011515859.1:p.Asn1932Ile
XM_011517558.1:c.5345A>T	XP_011515860.1:p.Asn1782Ile
XM_011517559.1:c.4553A>T	XP_011515861.1:p.Asn1518Ile
XM_011517553.2:c.7808A>T	XP_011515855.1:p.Asn2603Ile
XM_011517554.3:c.7808A>T	XP_011515856.1:p.Asn2603Ile
XM_011517555.2:c.7805A>T	XP_011515857.1:p.Asn2602Ile
XM_017013612.1:c.7808A>T	XP_016869101.1:p.Asn2603Ile
XM_017013613.1:c.7715A>T	XP_016869102.1:p.Asn2572Ile
NM_017780.4:c.7718A>T MANE Select	NP_060250.2:p.Asn2573Ile