Canonical Allele Identifier: CA354604704
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756860C>A , CM000665.2:g.133756860C>A GRCh38
NC_000003.11:g.133475704C>A , CM000665.1:g.133475704C>A GRCh37
NC_000003.10:g.134958394C>A NCBI36
NG_013080.1:g.15728C>A
NG_013080.2:g.99863C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.721C>A MANE Select ENSP00000385834.3:p.Gln241Lys
ENST00000402696.7:c.721C>A ENSP00000385834.3:p.Gln241Lys
ENST00000482271.5:c.340C>A ENSP00000419338.1:p.Gln114Lys
ENST00000485977.1:c.158-72C>A ENSP00000418716.1:n.158-72C>A
NM_001063.3:c.721C>A NP_001054.1:p.Gln241Lys
XM_011513100.1:c.721C>A XP_011511402.1:p.Gln241Lys
NM_001354703.1:c.589C>A NP_001341632.1:p.Gln197Lys
NM_001354704.1:c.340C>A NP_001341633.1:p.Gln114Lys
NM_001063.4:c.721C>A MANE Select NP_001054.2:p.Gln241Lys
NM_001354703.2:c.589C>A NP_001341632.2:p.Gln197Lys
NM_001354704.2:c.340C>A NP_001341633.2:p.Gln114Lys