Canonical Allele Identifier: CA2739278176
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2841254
ClinVar RCV Id: RCV003718900

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133757019C>G , CM000665.2:g.133757019C>G GRCh38
NC_000003.11:g.133475863C>G , CM000665.1:g.133475863C>G GRCh37
NC_000003.10:g.134958553C>G NCBI36
NG_013080.1:g.15887C>G
NG_013080.2:g.100022C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.870+10C>G MANE Select ENSP00000385834.3:n.870+10C>G
ENST00000402696.7:c.870+10C>G ENSP00000385834.3:n.870+10C>G
ENST00000485977.1:c.235+10C>G ENSP00000418716.1:n.235+10C>G
NM_001063.3:c.870+10C>G NP_001054.1:n.870+10C>G
XM_011513100.1:c.870+10C>G XP_011511402.1:n.870+10C>G
NM_001354703.1:c.738+10C>G NP_001341632.1:n.738+10C>G
NM_001354704.1:c.489+10C>G NP_001341633.1:n.489+10C>G
NM_001063.4:c.870+10C>G MANE Select NP_001054.2:n.870+10C>G
NM_001354703.2:c.738+10C>G NP_001341632.2:n.738+10C>G
NM_001354704.2:c.489+10C>G NP_001341633.2:n.489+10C>G