Canonical Allele Identifier: CA4760344
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2919900
ClinVar RCV Id: RCV003604591
dbSNP Id: rs765474106
gnomAD v2: 8-61761675-A-G
gnomAD v4: 8-60849116-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60849116A>G , CM000670.2:g.60849116A>G GRCh38
NC_000008.10:g.61761675A>G , CM000670.1:g.61761675A>G GRCh37
NC_000008.9:g.61924229A>G NCBI36
NG_007009.1:g.175337A>G , LRG_176:g.175337A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.5366A>G ENSP00000512218.1:p.Glu1789Gly
ENST00000423902.7:c.5366A>G MANE Select ENSP00000392028.1:p.Glu1789Gly
ENST00000423902.6:c.5366A>G ENSP00000392028.1:p.Glu1789Gly
ENST00000524602.5:c.1717-13113A>G ENSP00000437061.1:n.1717-13113A>G
NM_001316690.1:c.1717-13113A>G NP_001303619.1:n.1717-13113A>G
NM_017780.3:c.5366A>G NP_060250.2:p.Glu1789Gly
XM_011517553.1:c.5456A>G XP_011515855.1:p.Glu1819Gly
XM_011517554.1:c.5456A>G XP_011515856.1:p.Glu1819Gly
XM_011517555.1:c.5456A>G XP_011515857.1:p.Glu1819Gly
XM_011517556.1:c.5456A>G XP_011515858.1:p.Glu1819Gly
XM_011517557.1:c.3443A>G XP_011515859.1:p.Glu1148Gly
XM_011517558.1:c.2993A>G XP_011515860.1:p.Glu998Gly
XM_011517559.1:c.2201A>G XP_011515861.1:p.Glu734Gly
XM_011517553.2:c.5456A>G XP_011515855.1:p.Glu1819Gly
XM_011517554.3:c.5456A>G XP_011515856.1:p.Glu1819Gly
XM_011517555.2:c.5456A>G XP_011515857.1:p.Glu1819Gly
XM_017013612.1:c.5456A>G XP_016869101.1:p.Glu1819Gly
XM_017013613.1:c.5366A>G XP_016869102.1:p.Glu1789Gly
NM_017780.4:c.5366A>G MANE Select NP_060250.2:p.Glu1789Gly