Canonical Allele Identifier: CA354611190

Gene: TF

Linked Data

• dbSNP Id: rs1208297022
• gnomAD v2: 3-133495962-C-T
• gnomAD v3: 3-133777118-C-T
• gnomAD v4: 3-133777118-C-T
• MyVariant Identifiers: chr3:g.133495962C>T (hg19) ; chr3:g.133777118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133777118C>T , CM000665.2:g.133777118C>T	GRCh38
NC_000003.11:g.133495962C>T , CM000665.1:g.133495962C>T	GRCh37
NC_000003.10:g.134978652C>T	NCBI36
NG_013080.1:g.35986C>T
NG_013080.2:g.120121C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000402696.9:c.1942C>T MANE Select	ENSP00000385834.3:p.Leu648Phe
ENST00000402696.7:c.1942C>T	ENSP00000385834.3:p.Leu648Phe
ENST00000461695.1:c.673C>T
ENST00000467842.1:n.2936C>T
NM_001063.3:c.1942C>T	NP_001054.1:p.Leu648Phe
XM_011513100.1:c.1942C>T	XP_011511402.1:p.Leu648Phe
NM_001354703.1:c.1810C>T	NP_001341632.1:p.Leu604Phe
NM_001354704.1:c.1561C>T	NP_001341633.1:p.Leu521Phe
NM_001063.4:c.1942C>T MANE Select	NP_001054.2:p.Leu648Phe
NM_001354703.2:c.1810C>T	NP_001341632.2:p.Leu604Phe
NM_001354704.2:c.1561C>T	NP_001341633.2:p.Leu521Phe