Canonical Allele Identifier: CA354610318
Gene: TF HGNC NCBI

Linked Data

dbSNP Id: rs1213272219

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133775492C>T , CM000665.2:g.133775492C>T GRCh38
NC_000003.11:g.133494336C>T , CM000665.1:g.133494336C>T GRCh37
NC_000003.10:g.134977026C>T NCBI36
NG_013080.1:g.34360C>T
NG_013080.2:g.118495C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.1747C>T MANE Select ENSP00000385834.3:p.Leu583Phe
ENST00000402696.7:c.1747C>T ENSP00000385834.3:p.Leu583Phe
ENST00000461695.1:c.478C>T
ENST00000467842.1:n.2741C>T
NM_001063.3:c.1747C>T NP_001054.1:p.Leu583Phe
XM_011513100.1:c.1747C>T XP_011511402.1:p.Leu583Phe
NM_001354703.1:c.1615C>T NP_001341632.1:p.Leu539Phe
NM_001354704.1:c.1366C>T NP_001341633.1:p.Leu456Phe
NM_001063.4:c.1747C>T MANE Select NP_001054.2:p.Leu583Phe
NM_001354703.2:c.1615C>T NP_001341632.2:p.Leu539Phe
NM_001354704.2:c.1366C>T NP_001341633.2:p.Leu456Phe