Canonical Allele Identifier: CA83692469
Gene: TF HGNC NCBI

Linked Data

dbSNP Id: rs574462197

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775193T>C , CM000665.2:g.133775193T>C GRCh38
NC_000003.11:g.133494037T>C , CM000665.1:g.133494037T>C GRCh37
NC_000003.10:g.134976727T>C NCBI36
NG_013080.1:g.34061T>C
NG_013080.2:g.118196T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1688-240T>C MANE Select ENSP00000385834.3:n.1688-240T>C
ENST00000402696.7:c.1688-240T>C ENSP00000385834.3:n.1688-240T>C
ENST00000461695.1:c.419-240T>C
ENST00000467842.1:n.2442T>C
NM_001063.3:c.1688-240T>C NP_001054.1:n.1688-240T>C
XM_011513100.1:c.1688-240T>C XP_011511402.1:n.1688-240T>C
NM_001354703.1:c.1556-240T>C NP_001341632.1:n.1556-240T>C
NM_001354704.1:c.1307-240T>C NP_001341633.1:n.1307-240T>C
NM_001063.4:c.1688-240T>C MANE Select NP_001054.2:n.1688-240T>C
NM_001354703.2:c.1556-240T>C NP_001341632.2:n.1556-240T>C
NM_001354704.2:c.1307-240T>C NP_001341633.2:n.1307-240T>C