Canonical Allele Identifier: CA461105725

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1552777
• ClinVar RCV Id: RCV002187213
• dbSNP Id: rs2129757721
• gnomAD v4: 8-60865088-A-C
• MyVariant Identifiers: chr8:g.61777647A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865088A>C , CM000670.2:g.60865088A>C	GRCh38
NC_000008.10:g.61777647A>C , CM000670.1:g.61777647A>C	GRCh37
NC_000008.9:g.61940201A>C	NCBI36
NG_007009.1:g.191309A>C , LRG_176:g.191309A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1325A>C
ENST00000695852.1:n.256A>C
ENST00000695853.1:c.*1208A>C	ENSP00000512218.1:n.*1208A>C
ENST00000423902.7:c.8149A>C MANE Select	ENSP00000392028.1:p.Arg2717=
ENST00000423902.6:c.8149A>C	ENSP00000392028.1:p.Arg2717=
ENST00000524602.5:c.2002A>C	ENSP00000437061.1:p.Arg668=
ENST00000528280.1:n.195A>C
ENST00000532149.1:n.571A>C
ENST00000618450.1:n.4185A>C
NM_001316690.1:c.2002A>C	NP_001303619.1:p.Arg668=
NM_017780.3:c.8149A>C	NP_060250.2:p.Arg2717=
XM_011517553.1:c.8239A>C	XP_011515855.1:p.Arg2747=
XM_011517554.1:c.8239A>C	XP_011515856.1:p.Arg2747=
XM_011517555.1:c.8236A>C	XP_011515857.1:p.Arg2746=
XM_011517556.1:c.8017A>C	XP_011515858.1:p.Arg2673=
XM_011517557.1:c.6226A>C	XP_011515859.1:p.Arg2076=
XM_011517558.1:c.5776A>C	XP_011515860.1:p.Arg1926=
XM_011517559.1:c.4984A>C	XP_011515861.1:p.Arg1662=
XM_011517553.2:c.8239A>C	XP_011515855.1:p.Arg2747=
XM_011517554.3:c.8239A>C	XP_011515856.1:p.Arg2747=
XM_011517555.2:c.8236A>C	XP_011515857.1:p.Arg2746=
XM_017013612.1:c.8239A>C	XP_016869101.1:p.Arg2747=
XM_017013613.1:c.8146A>C	XP_016869102.1:p.Arg2716=
NM_017780.4:c.8149A>C MANE Select	NP_060250.2:p.Arg2717=