Canonical Allele Identifier: CA461105721

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777644A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865085A>C , CM000670.2:g.60865085A>C	GRCh38
NC_000008.10:g.61777644A>C , CM000670.1:g.61777644A>C	GRCh37
NC_000008.9:g.61940198A>C	NCBI36
NG_007009.1:g.191306A>C , LRG_176:g.191306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1322A>C
ENST00000695852.1:n.253A>C
ENST00000695853.1:c.*1205A>C	ENSP00000512218.1:n.*1205A>C
ENST00000423902.7:c.8146A>C MANE Select	ENSP00000392028.1:p.Arg2716=
ENST00000423902.6:c.8146A>C	ENSP00000392028.1:p.Arg2716=
ENST00000524602.5:c.1999A>C	ENSP00000437061.1:p.Arg667=
ENST00000528280.1:n.192A>C
ENST00000532149.1:n.568A>C
ENST00000618450.1:n.4182A>C
NM_001316690.1:c.1999A>C	NP_001303619.1:p.Arg667=
NM_017780.3:c.8146A>C	NP_060250.2:p.Arg2716=
XM_011517553.1:c.8236A>C	XP_011515855.1:p.Arg2746=
XM_011517554.1:c.8236A>C	XP_011515856.1:p.Arg2746=
XM_011517555.1:c.8233A>C	XP_011515857.1:p.Arg2745=
XM_011517556.1:c.8014A>C	XP_011515858.1:p.Arg2672=
XM_011517557.1:c.6223A>C	XP_011515859.1:p.Arg2075=
XM_011517558.1:c.5773A>C	XP_011515860.1:p.Arg1925=
XM_011517559.1:c.4981A>C	XP_011515861.1:p.Arg1661=
XM_011517553.2:c.8236A>C	XP_011515855.1:p.Arg2746=
XM_011517554.3:c.8236A>C	XP_011515856.1:p.Arg2746=
XM_011517555.2:c.8233A>C	XP_011515857.1:p.Arg2745=
XM_017013612.1:c.8236A>C	XP_016869101.1:p.Arg2746=
XM_017013613.1:c.8143A>C	XP_016869102.1:p.Arg2715=
NM_017780.4:c.8146A>C MANE Select	NP_060250.2:p.Arg2716=