Allele Registry

Canonical Allele Identifier: CA2625253

Gene: TF HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN167019 (not active)

COSN8869497 (not active)

COSN9757065 (not active)

COSN14774475 (not active)

COSN26727484 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr3:g.133764852T>C

GRCh37 chr3:g.133483696T>C

Linked Data - Sequence & Population

gnomAD v2:

3:133483696 T / C

gnomAD v3:

3:133764852 T / C

gnomAD v4:

chr3-133764852-T-C

Joint Max Group AF 0.59350376 (NFE)

Genomes Max Group AF 0.58686948 (NFE)

Exomes Max Group AF 0.59567861 (AMR)

Linked Data - NCBI & NCI

dbSNP:

1880669

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133764852T>C , CM000665.2:g.133764852T>C	GRCh38
NC_000003.11:g.133483696T>C , CM000665.1:g.133483696T>C	GRCh37
NC_000003.10:g.134966386T>C	NCBI36
NG_013080.1:g.23720T>C
NG_013080.2:g.107855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.1298-23T>C MANE Select	ENSP00000385834.3:n.1298-23T>C
ENST00000402696.7:c.1298-23T>C	ENSP00000385834.3:n.1298-23T>C
NM_001063.3:c.1298-23T>C	NP_001054.1:n.1298-23T>C
XM_011513100.1:c.1298-23T>C	XP_011511402.1:n.1298-23T>C
NM_001354703.1:c.1166-23T>C	NP_001341632.1:n.1166-23T>C
NM_001354704.1:c.917-23T>C	NP_001341633.1:n.917-23T>C
NM_001063.4:c.1298-23T>C MANE Select	NP_001054.2:n.1298-23T>C
NM_001354703.2:c.1166-23T>C	NP_001341632.2:n.1166-23T>C
NM_001354704.2:c.917-23T>C	NP_001341633.2:n.917-23T>C

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