Canonical Allele Identifier: CA354605048
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133757007C>A , CM000665.2:g.133757007C>A GRCh38
NC_000003.11:g.133475851C>A , CM000665.1:g.133475851C>A GRCh37
NC_000003.10:g.134958541C>A NCBI36
NG_013080.1:g.15875C>A
NG_013080.2:g.100010C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.868C>A MANE Select ENSP00000385834.3:p.Gln290Lys
ENST00000402696.7:c.868C>A ENSP00000385834.3:p.Gln290Lys
ENST00000485977.1:c.233C>A ENSP00000418716.1:p.Pro78Gln
NM_001063.3:c.868C>A NP_001054.1:p.Gln290Lys
XM_011513100.1:c.868C>A XP_011511402.1:p.Gln290Lys
NM_001354703.1:c.736C>A NP_001341632.1:p.Gln246Lys
NM_001354704.1:c.487C>A NP_001341633.1:p.Gln163Lys
NM_001063.4:c.868C>A MANE Select NP_001054.2:p.Gln290Lys
NM_001354703.2:c.736C>A NP_001341632.2:p.Gln246Lys
NM_001354704.2:c.487C>A NP_001341633.2:p.Gln163Lys