Canonical Allele Identifier: CA354610407
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775532G>T , CM000665.2:g.133775532G>T GRCh38
NC_000003.11:g.133494376G>T , CM000665.1:g.133494376G>T GRCh37
NC_000003.10:g.134977066G>T NCBI36
NG_013080.1:g.34400G>T
NG_013080.2:g.118535G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1787G>T MANE Select ENSP00000385834.3:p.Cys596Phe
ENST00000402696.7:c.1787G>T ENSP00000385834.3:p.Cys596Phe
ENST00000461695.1:c.518G>T
ENST00000467842.1:n.2781G>T
NM_001063.3:c.1787G>T NP_001054.1:p.Cys596Phe
XM_011513100.1:c.1787G>T XP_011511402.1:p.Cys596Phe
NM_001354703.1:c.1655G>T NP_001341632.1:p.Cys552Phe
NM_001354704.1:c.1406G>T NP_001341633.1:p.Cys469Phe
NM_001063.4:c.1787G>T MANE Select NP_001054.2:p.Cys596Phe
NM_001354703.2:c.1655G>T NP_001341632.2:p.Cys552Phe
NM_001354704.2:c.1406G>T NP_001341633.2:p.Cys469Phe