Canonical Allele Identifier: CA405998663

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2745238
• ClinVar RCV Id: RCV003567974
• dbSNP Id: rs1204546453
• MyVariant Identifiers: chr19:g.41838161G>C (hg19) ; chr19:g.41332256G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332256G>C , CM000681.2:g.41332256G>C	GRCh38
NC_000019.9:g.41838161G>C , CM000681.1:g.41838161G>C	GRCh37
NC_000019.8:g.46530001G>C	NCBI36
NG_013364.1:g.26671C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.886C>G MANE Select	ENSP00000221930.4:p.Arg296Gly
ENST00000600196.2:c.738C>G	ENSP00000504008.1:p.Cys246Trp
ENST00000677934.1:c.660C>G	ENSP00000504769.1:p.Cys220Trp
ENST00000221930.5:c.886C>G	ENSP00000221930.4:p.Arg296Gly
ENST00000598758.5:c.174C>G
ENST00000600196.1:n.198C>G
NM_000660.5:c.886C>G	NP_000651.3:p.Arg296Gly
XM_011527242.1:c.889C>G	XP_011525544.1:p.Arg297Gly
NM_000660.6:c.886C>G	NP_000651.3:p.Arg296Gly
XM_011527242.2:c.889C>G	XP_011525544.1:p.Arg297Gly
NM_000660.7:c.886C>G MANE Select	NP_000651.3:p.Arg296Gly