Canonical Allele Identifier: CA354604763
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.733C>G MANE Select ENSP00000385834.3:p.Leu245Val
ENST00000402696.7:c.733C>G ENSP00000385834.3:p.Leu245Val
ENST00000482271.5:c.352C>G ENSP00000419338.1:p.Leu118Val
ENST00000485977.1:c.158-60C>G ENSP00000418716.1:n.158-60C>G
NM_001063.3:c.733C>G NP_001054.1:p.Leu245Val
XM_011513100.1:c.733C>G XP_011511402.1:p.Leu245Val
NM_001354703.1:c.601C>G NP_001341632.1:p.Leu201Val
NM_001354704.1:c.352C>G NP_001341633.1:p.Leu118Val
NM_001063.4:c.733C>G MANE Select NP_001054.2:p.Leu245Val
NM_001354703.2:c.601C>G NP_001341632.2:p.Leu201Val
NM_001354704.2:c.352C>G NP_001341633.2:p.Leu118Val