Canonical Allele Identifier: CA406000053

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41848138A>C (hg19) ; chr19:g.41342233A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342233A>C , CM000681.2:g.41342233A>C	GRCh38
NC_000019.9:g.41848138A>C , CM000681.1:g.41848138A>C	GRCh37
NC_000019.8:g.46539978A>C	NCBI36
NG_013364.1:g.16694T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.649T>G MANE Select	ENSP00000221930.4:p.Phe217Val
ENST00000600196.2:c.649T>G	ENSP00000504008.1:p.Phe217Val
ENST00000677934.1:c.634+2514T>G	ENSP00000504769.1:n.634+2514T>G
ENST00000221930.5:c.649T>G	ENSP00000221930.4:p.Phe217Val
ENST00000597453.1:n.180T>G
ENST00000600196.1:n.109T>G
NM_000660.5:c.649T>G	NP_000651.3:p.Phe217Val
XM_011527242.1:c.649T>G	XP_011525544.1:p.Phe217Val
NM_000660.6:c.649T>G	NP_000651.3:p.Phe217Val
XM_011527242.2:c.649T>G	XP_011525544.1:p.Phe217Val
NM_000660.7:c.649T>G MANE Select	NP_000651.3:p.Phe217Val