Canonical Allele Identifier: CA354605037

Gene: TF

Linked Data

• dbSNP Id: rs1352840166
• gnomAD v2: 3-133475845-C-A
• MyVariant Identifiers: chr3:g.133475845C>A (hg19) ; chr3:g.133757001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133757001C>A , CM000665.2:g.133757001C>A	GRCh38
NC_000003.11:g.133475845C>A , CM000665.1:g.133475845C>A	GRCh37
NC_000003.10:g.134958535C>A	NCBI36
NG_013080.1:g.15869C>A
NG_013080.2:g.100004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.862C>A MANE Select	ENSP00000385834.3:p.Gln288Lys
ENST00000402696.7:c.862C>A	ENSP00000385834.3:p.Gln288Lys
ENST00000485977.1:c.227C>A	ENSP00000418716.1:p.Pro76Gln
NM_001063.3:c.862C>A	NP_001054.1:p.Gln288Lys
XM_011513100.1:c.862C>A	XP_011511402.1:p.Gln288Lys
NM_001354703.1:c.730C>A	NP_001341632.1:p.Gln244Lys
NM_001354704.1:c.481C>A	NP_001341633.1:p.Gln161Lys
NM_001063.4:c.862C>A MANE Select	NP_001054.2:p.Gln288Lys
NM_001354703.2:c.730C>A	NP_001341632.2:p.Gln244Lys
NM_001354704.2:c.481C>A	NP_001341633.2:p.Gln161Lys