Canonical Allele Identifier: CA15231806
Gene: TF HGNC NCBI
COSMIC:
COSN14758912 (not active)
MyVariant.info:
GRCh38 chr3:g.133765185G>A
GRCh37 chr3:g.133484029G>A
gnomAD v2:
3:133484029 G / A
gnomAD v3:
3:133765185 G / A
gnomAD v4:
chr3-133765185-G-A
Joint Max Group AF 0.40756539 (SAS)
Genomes Max Group AF 0.40756539 (SAS)
dbSNP:
3811647
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133765185G>A , CM000665.2:g.133765185G>A GRCh38
NC_000003.11:g.133484029G>A , CM000665.1:g.133484029G>A GRCh37
NC_000003.10:g.134966719G>A NCBI36
NG_013080.1:g.24053G>A
NG_013080.2:g.108188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1330+278G>A MANE Select ENSP00000385834.3:n.1330+278G>A
ENST00000402696.7:c.1330+278G>A ENSP00000385834.3:n.1330+278G>A
NM_001063.3:c.1330+278G>A NP_001054.1:n.1330+278G>A
XM_011513100.1:c.1330+278G>A XP_011511402.1:n.1330+278G>A
NM_001354703.1:c.1198+278G>A NP_001341632.1:n.1198+278G>A
NM_001354704.1:c.949+278G>A NP_001341633.1:n.949+278G>A
NM_001063.4:c.1330+278G>A MANE Select NP_001054.2:n.1330+278G>A
NM_001354703.2:c.1198+278G>A NP_001341632.2:n.1198+278G>A
NM_001354704.2:c.949+278G>A NP_001341633.2:n.949+278G>A
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