Canonical Allele Identifier: CA354610357
Gene: TF HGNC NCBI

Linked Data

COSMIC: COSM267563

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775511C>A , CM000665.2:g.133775511C>A GRCh38
NC_000003.11:g.133494355C>A , CM000665.1:g.133494355C>A GRCh37
NC_000003.10:g.134977045C>A NCBI36
NG_013080.1:g.34379C>A
NG_013080.2:g.118514C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1766C>A MANE Select ENSP00000385834.3:p.Pro589His
ENST00000402696.7:c.1766C>A ENSP00000385834.3:p.Pro589His
ENST00000461695.1:c.497C>A
ENST00000467842.1:n.2760C>A
NM_001063.3:c.1766C>A NP_001054.1:p.Pro589His
XM_011513100.1:c.1766C>A XP_011511402.1:p.Pro589His
NM_001354703.1:c.1634C>A NP_001341632.1:p.Pro545His
NM_001354704.1:c.1385C>A NP_001341633.1:p.Pro462His
NM_001063.4:c.1766C>A MANE Select NP_001054.2:p.Pro589His
NM_001354703.2:c.1634C>A NP_001341632.2:p.Pro545His
NM_001354704.2:c.1385C>A NP_001341633.2:p.Pro462His