Canonical Allele Identifier: CA122561
Gene: TF HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.133777188G>A
GRCh37 chr3:g.133496032G>A
Revel Score:
ENST00000402696 (MANE Select) 0.386
ENST00000264998 0.386
gnomAD v2:
3:133496032 G / A
gnomAD v3:
3:133777188 G / A
gnomAD v4:
chr3-133777188-G-A
Joint Max Group AF 0.00476047 (NFE)
Genomes Max Group AF 0.00463072 (NFE)
Exomes Max Group AF 0.00474515 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777188G>A , CM000665.2:g.133777188G>A GRCh38
NC_000003.11:g.133496032G>A , CM000665.1:g.133496032G>A GRCh37
NC_000003.10:g.134978722G>A NCBI36
NG_013080.1:g.36056G>A
NG_013080.2:g.120191G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.2012G>A MANE Select ENSP00000385834.3:p.Gly671Glu
ENST00000402696.7:c.2012G>A ENSP00000385834.3:p.Gly671Glu
ENST00000461695.1:c.743G>A
ENST00000467842.1:n.3006G>A
NM_001063.3:c.2012G>A NP_001054.1:p.Gly671Glu
XM_011513100.1:c.2012G>A XP_011511402.1:p.Gly671Glu
NM_001354703.1:c.1880G>A NP_001341632.1:p.Gly627Glu
NM_001354704.1:c.1631G>A NP_001341633.1:p.Gly544Glu
NM_001063.4:c.2012G>A MANE Select NP_001054.2:p.Gly671Glu
NM_001354703.2:c.1880G>A NP_001341632.2:p.Gly627Glu
NM_001354704.2:c.1631G>A NP_001341633.2:p.Gly544Glu
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