Canonical Allele Identifier: CA2625286
Gene: TF HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.133766289A>G
GRCh37 chr3:g.133485133A>G
Revel Score:
ENST00000402696 (MANE Select) 0.167
ENST00000264998 0.167
gnomAD v2:
3:133485133 A / G
gnomAD v3:
3:133766289 A / G
gnomAD v4:
chr3-133766289-A-G
Joint Max Group AF 0.99846414 (NFE)
Genomes Max Group AF 0.99365837 (NFE)
Exomes Max Group AF 0.99841962 (NFE)
ClinVar RCV:
RCV002132157
ClinVar Variation:
1600156
dbSNP:
2692696
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766289A>G , CM000665.2:g.133766289A>G GRCh38
NC_000003.11:g.133485133A>G , CM000665.1:g.133485133A>G GRCh37
NC_000003.10:g.134967823A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1342A>G MANE Select ENSP00000385834.3:p.Ile448Val
ENST00000402696.7:c.1342A>G ENSP00000385834.3:p.Ile448Val
ENST00000461695.1:c.12A>G
XM_011513100.1:c.1342A>G XP_011511402.1:p.Ile448Val
NM_001063.4:c.1342A>G MANE Select NP_001054.2:p.Ile448Val
NM_001354703.2:c.1210A>G NP_001341632.2:p.Ile404Val
NM_001354704.2:c.961A>G NP_001341633.2:p.Ile321Val
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