Canonical Allele Identifier: CA461105755

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777670G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865111G>A , CM000670.2:g.60865111G>A	GRCh38
NC_000008.10:g.61777670G>A , CM000670.1:g.61777670G>A	GRCh37
NC_000008.9:g.61940224G>A	NCBI36
NG_007009.1:g.191332G>A , LRG_176:g.191332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1348G>A
ENST00000695852.1:n.279G>A
ENST00000695853.1:c.*1231G>A	ENSP00000512218.1:n.*1231G>A
ENST00000423902.7:c.8172G>A MANE Select	ENSP00000392028.1:p.Glu2724=
ENST00000423902.6:c.8172G>A	ENSP00000392028.1:p.Glu2724=
ENST00000524602.5:c.2025G>A	ENSP00000437061.1:p.Glu675=
ENST00000528280.1:n.218G>A
ENST00000532149.1:n.594G>A
ENST00000618450.1:n.4208G>A
NM_001316690.1:c.2025G>A	NP_001303619.1:p.Glu675=
NM_017780.3:c.8172G>A	NP_060250.2:p.Glu2724=
XM_011517553.1:c.8262G>A	XP_011515855.1:p.Glu2754=
XM_011517554.1:c.8262G>A	XP_011515856.1:p.Glu2754=
XM_011517555.1:c.8259G>A	XP_011515857.1:p.Glu2753=
XM_011517556.1:c.8040G>A	XP_011515858.1:p.Glu2680=
XM_011517557.1:c.6249G>A	XP_011515859.1:p.Glu2083=
XM_011517558.1:c.5799G>A	XP_011515860.1:p.Glu1933=
XM_011517559.1:c.5007G>A	XP_011515861.1:p.Glu1669=
XM_011517553.2:c.8262G>A	XP_011515855.1:p.Glu2754=
XM_011517554.3:c.8262G>A	XP_011515856.1:p.Glu2754=
XM_011517555.2:c.8259G>A	XP_011515857.1:p.Glu2753=
XM_017013612.1:c.8262G>A	XP_016869101.1:p.Glu2754=
XM_017013613.1:c.8169G>A	XP_016869102.1:p.Glu2723=
NM_017780.4:c.8172G>A MANE Select	NP_060250.2:p.Glu2724=