Canonical Allele Identifier: CA1403107191
Community Standard Title: NM_001063.4(TF):c.739C= (p.Leu247=)
Gene: TF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756878C= , CM000665.2:g.133756878C= GRCh38
NC_000003.11:g.133475722C= , CM000665.1:g.133475722C= GRCh37
NC_000003.10:g.134958412C= NCBI36
NG_013080.1:g.15746C=
NG_013080.2:g.99881C=

Transcript Alleles

HGVS Amino-acid Change
NM_001063.4:c.739C= MANE Select NP_001054.2:p.Leu247=
ENST00000402696.9:c.739C= MANE Select ENSP00000385834.3:p.Leu247=
NM_001063.3:c.739C= NP_001054.1:p.Leu247=
NM_001354703.1:c.607C= NP_001341632.1:p.Leu203=
NM_001354703.2:c.607C= NP_001341632.2:p.Leu203=
NM_001354704.1:c.358C= NP_001341633.1:p.Leu120=
NM_001354704.2:c.358C= NP_001341633.2:p.Leu120=
ENST00000402696.7:c.739C= ENSP00000385834.3:p.Leu247=
ENST00000482271.5:c.358C= ENSP00000419338.1:p.Leu120=
ENST00000485977.1:c.158-54C= ENSP00000418716.1:n.158-54C=
XM_011513100.1:c.739C= XP_011511402.1:p.Leu247=