Canonical Allele Identifier: CA435815802
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2701870
ClinVar RCV Id: RCV003549905
MyVariant Identifiers: chr3:g.133494287T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775443T>G , CM000665.2:g.133775443T>G GRCh38
NC_000003.11:g.133494287T>G , CM000665.1:g.133494287T>G GRCh37
NC_000003.10:g.134976977T>G NCBI36
NG_013080.1:g.34311T>G
NG_013080.2:g.118446T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1698T>G MANE Select ENSP00000385834.3:p.Pro566=
ENST00000402696.7:c.1698T>G ENSP00000385834.3:p.Pro566=
ENST00000461695.1:c.429T>G
ENST00000467842.1:n.2692T>G
NM_001063.3:c.1698T>G NP_001054.1:p.Pro566=
XM_011513100.1:c.1698T>G XP_011511402.1:p.Pro566=
NM_001354703.1:c.1566T>G NP_001341632.1:p.Pro522=
NM_001354704.1:c.1317T>G NP_001341633.1:p.Pro439=
NM_001063.4:c.1698T>G MANE Select NP_001054.2:p.Pro566=
NM_001354703.2:c.1566T>G NP_001341632.2:p.Pro522=
NM_001354704.2:c.1317T>G NP_001341633.2:p.Pro439=