Canonical Allele Identifier: CA2667769487
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2838733
ClinVar RCV Id: RCV003695185

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133766263G>C , CM000665.2:g.133766263G>C GRCh38
NC_000003.11:g.133485107G>C , CM000665.1:g.133485107G>C GRCh37
NC_000003.10:g.134967797G>C NCBI36
NG_013080.1:g.25131G>C
NG_013080.2:g.109266G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1331-15G>C MANE Select ENSP00000385834.3:n.1331-15G>C
ENST00000402696.7:c.1331-15G>C ENSP00000385834.3:n.1331-15G>C
NM_001063.3:c.1331-15G>C NP_001054.1:n.1331-15G>C
XM_011513100.1:c.1331-15G>C XP_011511402.1:n.1331-15G>C
NM_001354703.1:c.1199-15G>C NP_001341632.1:n.1199-15G>C
NM_001354704.1:c.950-15G>C NP_001341633.1:n.950-15G>C
NM_001063.4:c.1331-15G>C MANE Select NP_001054.2:n.1331-15G>C
NM_001354703.2:c.1199-15G>C NP_001341632.2:n.1199-15G>C
NM_001354704.2:c.950-15G>C NP_001341633.2:n.950-15G>C