Canonical Allele Identifier: CA1403122872
Gene: TF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775566C= , CM000665.2:g.133775566C= GRCh38
NC_000003.11:g.133494410C= , CM000665.1:g.133494410C= GRCh37
NC_000003.10:g.134977100C= NCBI36
NG_013080.1:g.34434C=
NG_013080.2:g.118569C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1821C= MANE Select ENSP00000385834.3:p.Val607=
ENST00000402696.7:c.1821C= ENSP00000385834.3:p.Val607=
ENST00000461695.1:c.552C=
ENST00000467842.1:n.2815C=
NM_001063.3:c.1821C= NP_001054.1:p.Val607=
XM_011513100.1:c.1821C= XP_011511402.1:p.Val607=
NM_001354703.1:c.1689C= NP_001341632.1:p.Val563=
NM_001354704.1:c.1440C= NP_001341633.1:p.Val480=
NM_001063.4:c.1821C= MANE Select NP_001054.2:p.Val607=
NM_001354703.2:c.1689C= NP_001341632.2:p.Val563=
NM_001354704.2:c.1440C= NP_001341633.2:p.Val480=