Canonical Allele Identifier: CA371307478

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777665A>C (hg19) ; chr8:g.60865106A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865106A>C , CM000670.2:g.60865106A>C	GRCh38
NC_000008.10:g.61777665A>C , CM000670.1:g.61777665A>C	GRCh37
NC_000008.9:g.61940219A>C	NCBI36
NG_007009.1:g.191327A>C , LRG_176:g.191327A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1343A>C
ENST00000695852.1:n.274A>C
ENST00000695853.1:c.*1226A>C	ENSP00000512218.1:n.*1226A>C
ENST00000423902.7:c.8167A>C MANE Select	ENSP00000392028.1:p.Ser2723Arg
ENST00000423902.6:c.8167A>C	ENSP00000392028.1:p.Ser2723Arg
ENST00000524602.5:c.2020A>C	ENSP00000437061.1:p.Ser674Arg
ENST00000528280.1:n.213A>C
ENST00000532149.1:n.589A>C
ENST00000618450.1:n.4203A>C
NM_001316690.1:c.2020A>C	NP_001303619.1:p.Ser674Arg
NM_017780.3:c.8167A>C	NP_060250.2:p.Ser2723Arg
XM_011517553.1:c.8257A>C	XP_011515855.1:p.Ser2753Arg
XM_011517554.1:c.8257A>C	XP_011515856.1:p.Ser2753Arg
XM_011517555.1:c.8254A>C	XP_011515857.1:p.Ser2752Arg
XM_011517556.1:c.8035A>C	XP_011515858.1:p.Ser2679Arg
XM_011517557.1:c.6244A>C	XP_011515859.1:p.Ser2082Arg
XM_011517558.1:c.5794A>C	XP_011515860.1:p.Ser1932Arg
XM_011517559.1:c.5002A>C	XP_011515861.1:p.Ser1668Arg
XM_011517553.2:c.8257A>C	XP_011515855.1:p.Ser2753Arg
XM_011517554.3:c.8257A>C	XP_011515856.1:p.Ser2753Arg
XM_011517555.2:c.8254A>C	XP_011515857.1:p.Ser2752Arg
XM_017013612.1:c.8257A>C	XP_016869101.1:p.Ser2753Arg
XM_017013613.1:c.8164A>C	XP_016869102.1:p.Ser2722Arg
NM_017780.4:c.8167A>C MANE Select	NP_060250.2:p.Ser2723Arg