Canonical Allele Identifier: CA177354186

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1754551
• ClinVar RCV Id: RCV002364632
• dbSNP Id: rs374331681
• gnomAD v2: 8-61765913-A-G
• gnomAD v3: 8-60853354-A-G
• gnomAD v4: 8-60853354-A-G
• MyVariant Identifiers: chr8:g.61765913A>G (hg19) ; chr8:g.60853354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853354A>G , CM000670.2:g.60853354A>G	GRCh38
NC_000008.10:g.61765913A>G , CM000670.1:g.61765913A>G	GRCh37
NC_000008.9:g.61928467A>G	NCBI36
NG_007009.1:g.179575A>G , LRG_176:g.179575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6629A>G	ENSP00000512218.1:p.Glu2210Gly
ENST00000423902.7:c.6629A>G MANE Select	ENSP00000392028.1:p.Glu2210Gly
ENST00000423902.6:c.6629A>G	ENSP00000392028.1:p.Glu2210Gly
ENST00000524602.5:c.1717-8875A>G	ENSP00000437061.1:n.1717-8875A>G
NM_001316690.1:c.1717-8875A>G	NP_001303619.1:n.1717-8875A>G
NM_017780.3:c.6629A>G	NP_060250.2:p.Glu2210Gly
XM_011517553.1:c.6719A>G	XP_011515855.1:p.Glu2240Gly
XM_011517554.1:c.6719A>G	XP_011515856.1:p.Glu2240Gly
XM_011517555.1:c.6719A>G	XP_011515857.1:p.Glu2240Gly
XM_011517556.1:c.6719A>G	XP_011515858.1:p.Glu2240Gly
XM_011517557.1:c.4706A>G	XP_011515859.1:p.Glu1569Gly
XM_011517558.1:c.4256A>G	XP_011515860.1:p.Glu1419Gly
XM_011517559.1:c.3464A>G	XP_011515861.1:p.Glu1155Gly
XM_011517553.2:c.6719A>G	XP_011515855.1:p.Glu2240Gly
XM_011517554.3:c.6719A>G	XP_011515856.1:p.Glu2240Gly
XM_011517555.2:c.6719A>G	XP_011515857.1:p.Glu2240Gly
XM_017013612.1:c.6719A>G	XP_016869101.1:p.Glu2240Gly
XM_017013613.1:c.6629A>G	XP_016869102.1:p.Glu2210Gly
NM_017780.4:c.6629A>G MANE Select	NP_060250.2:p.Glu2210Gly