Canonical Allele Identifier: CA2625441
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 2979471
ClinVar RCV Id: RCV003832101
dbSNP Id: rs540808700

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777029A>G , CM000665.2:g.133777029A>G GRCh38
NC_000003.11:g.133495873A>G , CM000665.1:g.133495873A>G GRCh37
NC_000003.10:g.134978563A>G NCBI36
NG_013080.1:g.35897A>G
NG_013080.2:g.120032A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1873-20A>G MANE Select ENSP00000385834.3:n.1873-20A>G
ENST00000402696.7:c.1873-20A>G ENSP00000385834.3:n.1873-20A>G
ENST00000461695.1:c.604-20A>G
ENST00000467842.1:n.2867-20A>G
NM_001063.3:c.1873-20A>G NP_001054.1:n.1873-20A>G
XM_011513100.1:c.1873-20A>G XP_011511402.1:n.1873-20A>G
NM_001354703.1:c.1741-20A>G NP_001341632.1:n.1741-20A>G
NM_001354704.1:c.1492-20A>G NP_001341633.1:n.1492-20A>G
NM_001063.4:c.1873-20A>G MANE Select NP_001054.2:n.1873-20A>G
NM_001354703.2:c.1741-20A>G NP_001341632.2:n.1741-20A>G
NM_001354704.2:c.1492-20A>G NP_001341633.2:n.1492-20A>G