Canonical Allele Identifier: CA354610364

Gene: TF

Linked Data

• gnomAD v4: 3-133775514-T-C
• MyVariant Identifiers: chr3:g.133494358T>C (hg19) ; chr3:g.133775514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133775514T>C , CM000665.2:g.133775514T>C	GRCh38
NC_000003.11:g.133494358T>C , CM000665.1:g.133494358T>C	GRCh37
NC_000003.10:g.134977048T>C	NCBI36
NG_013080.1:g.34382T>C
NG_013080.2:g.118517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402696.9:c.1769T>C MANE Select	ENSP00000385834.3:p.Val590Ala
ENST00000402696.7:c.1769T>C	ENSP00000385834.3:p.Val590Ala
ENST00000461695.1:c.500T>C
ENST00000467842.1:n.2763T>C
NM_001063.3:c.1769T>C	NP_001054.1:p.Val590Ala
XM_011513100.1:c.1769T>C	XP_011511402.1:p.Val590Ala
NM_001354703.1:c.1637T>C	NP_001341632.1:p.Val546Ala
NM_001354704.1:c.1388T>C	NP_001341633.1:p.Val463Ala
NM_001063.4:c.1769T>C MANE Select	NP_001054.2:p.Val590Ala
NM_001354703.2:c.1637T>C	NP_001341632.2:p.Val546Ala
NM_001354704.2:c.1388T>C	NP_001341633.2:p.Val463Ala