Canonical Allele Identifier: CA371309160

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777920A>G (hg19) ; chr8:g.60865361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865361A>G , CM000670.2:g.60865361A>G	GRCh38
NC_000008.10:g.61777920A>G , CM000670.1:g.61777920A>G	GRCh37
NC_000008.9:g.61940474A>G	NCBI36
NG_007009.1:g.191582A>G , LRG_176:g.191582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1598A>G
ENST00000695852.1:n.529A>G
ENST00000695853.1:c.*1481A>G	ENSP00000512218.1:n.*1481A>G
ENST00000423902.7:c.8422A>G MANE Select	ENSP00000392028.1:p.Asn2808Asp
ENST00000423902.6:c.8422A>G	ENSP00000392028.1:p.Asn2808Asp
ENST00000524602.5:c.2275A>G	ENSP00000437061.1:p.Asn759Asp
ENST00000528280.1:n.468A>G
NM_001316690.1:c.2275A>G	NP_001303619.1:p.Asn759Asp
NM_017780.3:c.8422A>G	NP_060250.2:p.Asn2808Asp
XM_011517553.1:c.8512A>G	XP_011515855.1:p.Asn2838Asp
XM_011517554.1:c.8512A>G	XP_011515856.1:p.Asn2838Asp
XM_011517555.1:c.8509A>G	XP_011515857.1:p.Asn2837Asp
XM_011517556.1:c.8290A>G	XP_011515858.1:p.Asn2764Asp
XM_011517557.1:c.6499A>G	XP_011515859.1:p.Asn2167Asp
XM_011517558.1:c.6049A>G	XP_011515860.1:p.Asn2017Asp
XM_011517559.1:c.5257A>G	XP_011515861.1:p.Asn1753Asp
XM_011517553.2:c.8512A>G	XP_011515855.1:p.Asn2838Asp
XM_011517554.3:c.8512A>G	XP_011515856.1:p.Asn2838Asp
XM_011517555.2:c.8509A>G	XP_011515857.1:p.Asn2837Asp
XM_017013612.1:c.8512A>G	XP_016869101.1:p.Asn2838Asp
XM_017013613.1:c.8419A>G	XP_016869102.1:p.Asn2807Asp
NM_017780.4:c.8422A>G MANE Select	NP_060250.2:p.Asn2808Asp