Canonical Allele Identifier: CA435806695
Gene: TF HGNC NCBI

Linked Data

dbSNP Id: rs1290167098

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133757000C>T , CM000665.2:g.133757000C>T GRCh38
NC_000003.11:g.133475844C>T , CM000665.1:g.133475844C>T GRCh37
NC_000003.10:g.134958534C>T NCBI36
NG_013080.1:g.15868C>T
NG_013080.2:g.100003C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.861C>T MANE Select ENSP00000385834.3:p.Asn287=
ENST00000402696.7:c.861C>T ENSP00000385834.3:p.Asn287=
ENST00000485977.1:c.226C>T ENSP00000418716.1:p.Pro76Ser
NM_001063.3:c.861C>T NP_001054.1:p.Asn287=
XM_011513100.1:c.861C>T XP_011511402.1:p.Asn287=
NM_001354703.1:c.729C>T NP_001341632.1:p.Asn243=
NM_001354704.1:c.480C>T NP_001341633.1:p.Asn160=
NM_001063.4:c.861C>T MANE Select NP_001054.2:p.Asn287=
NM_001354703.2:c.729C>T NP_001341632.2:p.Asn243=
NM_001354704.2:c.480C>T NP_001341633.2:p.Asn160=