Canonical Allele Identifier: CA371307489

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777667T>A (hg19) ; chr8:g.60865108T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865108T>A , CM000670.2:g.60865108T>A	GRCh38
NC_000008.10:g.61777667T>A , CM000670.1:g.61777667T>A	GRCh37
NC_000008.9:g.61940221T>A	NCBI36
NG_007009.1:g.191329T>A , LRG_176:g.191329T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1345T>A
ENST00000695852.1:n.276T>A
ENST00000695853.1:c.*1228T>A	ENSP00000512218.1:n.*1228T>A
ENST00000423902.7:c.8169T>A MANE Select	ENSP00000392028.1:p.Ser2723Arg
ENST00000423902.6:c.8169T>A	ENSP00000392028.1:p.Ser2723Arg
ENST00000524602.5:c.2022T>A	ENSP00000437061.1:p.Ser674Arg
ENST00000528280.1:n.215T>A
ENST00000532149.1:n.591T>A
ENST00000618450.1:n.4205T>A
NM_001316690.1:c.2022T>A	NP_001303619.1:p.Ser674Arg
NM_017780.3:c.8169T>A	NP_060250.2:p.Ser2723Arg
XM_011517553.1:c.8259T>A	XP_011515855.1:p.Ser2753Arg
XM_011517554.1:c.8259T>A	XP_011515856.1:p.Ser2753Arg
XM_011517555.1:c.8256T>A	XP_011515857.1:p.Ser2752Arg
XM_011517556.1:c.8037T>A	XP_011515858.1:p.Ser2679Arg
XM_011517557.1:c.6246T>A	XP_011515859.1:p.Ser2082Arg
XM_011517558.1:c.5796T>A	XP_011515860.1:p.Ser1932Arg
XM_011517559.1:c.5004T>A	XP_011515861.1:p.Ser1668Arg
XM_011517553.2:c.8259T>A	XP_011515855.1:p.Ser2753Arg
XM_011517554.3:c.8259T>A	XP_011515856.1:p.Ser2753Arg
XM_011517555.2:c.8256T>A	XP_011515857.1:p.Ser2752Arg
XM_017013612.1:c.8259T>A	XP_016869101.1:p.Ser2753Arg
XM_017013613.1:c.8166T>A	XP_016869102.1:p.Ser2722Arg
NM_017780.4:c.8169T>A MANE Select	NP_060250.2:p.Ser2723Arg