Canonical Allele Identifier: CA354604764
Gene: TF HGNC NCBI

Linked Data

dbSNP Id: rs1277618252

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756872C>T , CM000665.2:g.133756872C>T GRCh38
NC_000003.11:g.133475716C>T , CM000665.1:g.133475716C>T GRCh37
NC_000003.10:g.134958406C>T NCBI36
NG_013080.1:g.15740C>T
NG_013080.2:g.99875C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.733C>T MANE Select ENSP00000385834.3:p.Leu245Phe
ENST00000402696.7:c.733C>T ENSP00000385834.3:p.Leu245Phe
ENST00000482271.5:c.352C>T ENSP00000419338.1:p.Leu118Phe
ENST00000485977.1:c.158-60C>T ENSP00000418716.1:n.158-60C>T
NM_001063.3:c.733C>T NP_001054.1:p.Leu245Phe
XM_011513100.1:c.733C>T XP_011511402.1:p.Leu245Phe
NM_001354703.1:c.601C>T NP_001341632.1:p.Leu201Phe
NM_001354704.1:c.352C>T NP_001341633.1:p.Leu118Phe
NM_001063.4:c.733C>T MANE Select NP_001054.2:p.Leu245Phe
NM_001354703.2:c.601C>T NP_001341632.2:p.Leu201Phe
NM_001354704.2:c.352C>T NP_001341633.2:p.Leu118Phe