Canonical Allele Identifier: CA354604924
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756947G>T , CM000665.2:g.133756947G>T GRCh38
NC_000003.11:g.133475791G>T , CM000665.1:g.133475791G>T GRCh37
NC_000003.10:g.134958481G>T NCBI36
NG_013080.1:g.15815G>T
NG_013080.2:g.99950G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.808G>T MANE Select ENSP00000385834.3:p.Val270Phe
ENST00000402696.7:c.808G>T ENSP00000385834.3:p.Val270Phe
ENST00000485977.1:c.173G>T ENSP00000418716.1:p.Arg58Leu
NM_001063.3:c.808G>T NP_001054.1:p.Val270Phe
XM_011513100.1:c.808G>T XP_011511402.1:p.Val270Phe
NM_001354703.1:c.676G>T NP_001341632.1:p.Val226Phe
NM_001354704.1:c.427G>T NP_001341633.1:p.Val143Phe
NM_001063.4:c.808G>T MANE Select NP_001054.2:p.Val270Phe
NM_001354703.2:c.676G>T NP_001341632.2:p.Val226Phe
NM_001354704.2:c.427G>T NP_001341633.2:p.Val143Phe