Canonical Allele Identifier: CA371307387

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777648G>T (hg19) ; chr8:g.60865089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865089G>T , CM000670.2:g.60865089G>T	GRCh38
NC_000008.10:g.61777648G>T , CM000670.1:g.61777648G>T	GRCh37
NC_000008.9:g.61940202G>T	NCBI36
NG_007009.1:g.191310G>T , LRG_176:g.191310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1326G>T
ENST00000695852.1:n.257G>T
ENST00000695853.1:c.*1209G>T	ENSP00000512218.1:n.*1209G>T
ENST00000423902.7:c.8150G>T MANE Select	ENSP00000392028.1:p.Arg2717Ile
ENST00000423902.6:c.8150G>T	ENSP00000392028.1:p.Arg2717Ile
ENST00000524602.5:c.2003G>T	ENSP00000437061.1:p.Arg668Ile
ENST00000528280.1:n.196G>T
ENST00000532149.1:n.572G>T
ENST00000618450.1:n.4186G>T
NM_001316690.1:c.2003G>T	NP_001303619.1:p.Arg668Ile
NM_017780.3:c.8150G>T	NP_060250.2:p.Arg2717Ile
XM_011517553.1:c.8240G>T	XP_011515855.1:p.Arg2747Ile
XM_011517554.1:c.8240G>T	XP_011515856.1:p.Arg2747Ile
XM_011517555.1:c.8237G>T	XP_011515857.1:p.Arg2746Ile
XM_011517556.1:c.8018G>T	XP_011515858.1:p.Arg2673Ile
XM_011517557.1:c.6227G>T	XP_011515859.1:p.Arg2076Ile
XM_011517558.1:c.5777G>T	XP_011515860.1:p.Arg1926Ile
XM_011517559.1:c.4985G>T	XP_011515861.1:p.Arg1662Ile
XM_011517553.2:c.8240G>T	XP_011515855.1:p.Arg2747Ile
XM_011517554.3:c.8240G>T	XP_011515856.1:p.Arg2747Ile
XM_011517555.2:c.8237G>T	XP_011515857.1:p.Arg2746Ile
XM_017013612.1:c.8240G>T	XP_016869101.1:p.Arg2747Ile
XM_017013613.1:c.8147G>T	XP_016869102.1:p.Arg2716Ile
NM_017780.4:c.8150G>T MANE Select	NP_060250.2:p.Arg2717Ile