Canonical Allele Identifier: CA354608539
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766290T>C , CM000665.2:g.133766290T>C GRCh38
NC_000003.11:g.133485134T>C , CM000665.1:g.133485134T>C GRCh37
NC_000003.10:g.134967824T>C NCBI36
NG_013080.1:g.25158T>C
NG_013080.2:g.109293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1343T>C MANE Select ENSP00000385834.3:p.Ile448Thr
ENST00000402696.7:c.1343T>C ENSP00000385834.3:p.Ile448Thr
ENST00000461695.1:c.13T>C
NM_001063.3:c.1343T>C NP_001054.1:p.Val448Ala
XM_011513100.1:c.1343T>C XP_011511402.1:p.Ile448Thr
NM_001354703.1:c.1211T>C NP_001341632.1:p.Val404Ala
NM_001354704.1:c.962T>C NP_001341633.1:p.Val321Ala
NM_001063.4:c.1343T>C MANE Select NP_001054.2:p.Ile448Thr
NM_001354703.2:c.1211T>C NP_001341632.2:p.Ile404Thr
NM_001354704.2:c.962T>C NP_001341633.2:p.Ile321Thr