Canonical Allele Identifier: CA371307891

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777740A>C (hg19) ; chr8:g.60865181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865181A>C , CM000670.2:g.60865181A>C	GRCh38
NC_000008.10:g.61777740A>C , CM000670.1:g.61777740A>C	GRCh37
NC_000008.9:g.61940294A>C	NCBI36
NG_007009.1:g.191402A>C , LRG_176:g.191402A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1418A>C
ENST00000695852.1:n.349A>C
ENST00000695853.1:c.*1301A>C	ENSP00000512218.1:n.*1301A>C
ENST00000423902.7:c.8242A>C MANE Select	ENSP00000392028.1:p.Ser2748Arg
ENST00000423902.6:c.8242A>C	ENSP00000392028.1:p.Ser2748Arg
ENST00000524602.5:c.2095A>C	ENSP00000437061.1:p.Ser699Arg
ENST00000528280.1:n.288A>C
NM_001316690.1:c.2095A>C	NP_001303619.1:p.Ser699Arg
NM_017780.3:c.8242A>C	NP_060250.2:p.Ser2748Arg
XM_011517553.1:c.8332A>C	XP_011515855.1:p.Ser2778Arg
XM_011517554.1:c.8332A>C	XP_011515856.1:p.Ser2778Arg
XM_011517555.1:c.8329A>C	XP_011515857.1:p.Ser2777Arg
XM_011517556.1:c.8110A>C	XP_011515858.1:p.Ser2704Arg
XM_011517557.1:c.6319A>C	XP_011515859.1:p.Ser2107Arg
XM_011517558.1:c.5869A>C	XP_011515860.1:p.Ser1957Arg
XM_011517559.1:c.5077A>C	XP_011515861.1:p.Ser1693Arg
XM_011517553.2:c.8332A>C	XP_011515855.1:p.Ser2778Arg
XM_011517554.3:c.8332A>C	XP_011515856.1:p.Ser2778Arg
XM_011517555.2:c.8329A>C	XP_011515857.1:p.Ser2777Arg
XM_017013612.1:c.8332A>C	XP_016869101.1:p.Ser2778Arg
XM_017013613.1:c.8239A>C	XP_016869102.1:p.Ser2747Arg
NM_017780.4:c.8242A>C MANE Select	NP_060250.2:p.Ser2748Arg