Canonical Allele Identifier: CA3068526
Gene: ADAD1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122380095A>G
GRCh37 chr4:g.123301250A>G
Revel Score:
ENST00000446706 0.047
ENST00000296513 (MANE Select) 0.047
ENST00000439307 0.047
ENST00000388724 0.047
gnomAD v2:
4:123301250 A / G
gnomAD v3:
4:122380095 A / G
gnomAD v4:
chr4-122380095-A-G
Joint Max Group AF 0.0002706 (NFE)
Genomes Max Group AF 0.00017079 (NFE)
Exomes Max Group AF 0.00027184 (NFE)
ClinVar RCV:
RCV004205865
ClinVar Variation:
2361927
dbSNP:
139643444
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122380095A>G , CM000666.2:g.122380095A>G GRCh38
NC_000004.11:g.123301250A>G , CM000666.1:g.123301250A>G GRCh37
NC_000004.10:g.123520700A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296513.7:c.26A>G MANE Select ENSP00000296513.2:p.Gln9Arg
ENST00000296513.6:c.26A>G ENSP00000296513.2:p.Gln9Arg
ENST00000388724.6:c.26A>G ENSP00000373376.2:p.Gln9Arg
ENST00000388725.2:c.-27-2A>G ENSP00000373377.2:n.-27-2A>G
ENST00000439307.5:c.26A>G ENSP00000397254.1:p.Gln9Arg
ENST00000446706.5:c.26A>G ENSP00000390510.1:p.Gln9Arg
ENST00000464160.1:n.452A>G
NM_001159285.1:c.26A>G NP_001152757.1:p.Gln9Arg
NM_001159295.1:c.-27-2A>G NP_001152767.1:n.-27-2A>G
NM_139243.3:c.26A>G NP_640336.1:p.Gln9Arg
XM_005262741.2:c.26A>G XP_005262798.1:p.Gln9Arg
XM_005262743.2:c.26A>G XP_005262800.1:p.Gln9Arg
XM_005262744.2:c.26A>G XP_005262801.1:p.Gln9Arg
XM_005262745.2:c.26A>G XP_005262802.1:p.Gln9Arg
XM_011531603.1:c.26A>G XP_011529905.1:p.Gln9Arg
XM_005262743.3:c.26A>G XP_005262800.1:p.Gln9Arg
XM_005262744.3:c.26A>G XP_005262801.1:p.Gln9Arg
XM_005262745.3:c.26A>G XP_005262802.1:p.Gln9Arg
XM_011531603.2:c.26A>G XP_011529905.1:p.Gln9Arg
XM_024453888.1:c.26A>G XP_024309656.1:p.Gln9Arg
XM_024453889.1:c.26A>G XP_024309657.1:p.Gln9Arg
XM_024453890.1:c.26A>G XP_024309658.1:p.Gln9Arg
NM_139243.4:c.26A>G MANE Select NP_640336.1:p.Gln9Arg
NM_001159285.2:c.26A>G NP_001152757.1:p.Gln9Arg
NM_001159295.2:c.-27-2A>G NP_001152767.1:n.-27-2A>G
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