Canonical Allele Identifier: CA122557
Gene: TF HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.133756969G>A
GRCh37 chr3:g.133475813G>A
Revel Score:
ENST00000402696 (MANE Select) 0.175
ENST00000264998 0.175
gnomAD v2:
3:133475813 G / A
gnomAD v3:
3:133756969 G / A
gnomAD v4:
chr3-133756969-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000013448
ClinVar Variation:
12614
dbSNP:
121918676
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756969G>A , CM000665.2:g.133756969G>A GRCh38
NC_000003.11:g.133475813G>A , CM000665.1:g.133475813G>A GRCh37
NC_000003.10:g.134958503G>A NCBI36
NG_013080.1:g.15837G>A
NG_013080.2:g.99972G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.830G>A MANE Select ENSP00000385834.3:p.Gly277Asp
ENST00000402696.7:c.830G>A ENSP00000385834.3:p.Gly277Asp
ENST00000485977.1:c.195G>A ENSP00000418716.1:p.Arg65=
NM_001063.3:c.830G>A NP_001054.1:p.Gly277Asp
XM_011513100.1:c.830G>A XP_011511402.1:p.Gly277Asp
NM_001354703.1:c.698G>A NP_001341632.1:p.Gly233Asp
NM_001354704.1:c.449G>A NP_001341633.1:p.Gly150Asp
NM_001063.4:c.830G>A MANE Select NP_001054.2:p.Gly277Asp
NM_001354703.2:c.698G>A NP_001341632.2:p.Gly233Asp
NM_001354704.2:c.449G>A NP_001341633.2:p.Gly150Asp
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