Canonical Allele Identifier: CA405998636

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 1506364
• ClinVar RCV Id: RCV002006676
• dbSNP Id: rs2123080497
• MyVariant Identifiers: chr19:g.41838154A>G (hg19) ; chr19:g.41332249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41332249A>G , CM000681.2:g.41332249A>G	GRCh38
NC_000019.9:g.41838154A>G , CM000681.1:g.41838154A>G	GRCh37
NC_000019.8:g.46529994A>G	NCBI36
NG_013364.1:g.26678T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.893T>C MANE Select	ENSP00000221930.4:p.Leu298Pro
ENST00000600196.2:c.745T>C	ENSP00000504008.1:p.Cys249Arg
ENST00000677934.1:c.667T>C	ENSP00000504769.1:p.Cys223Arg
ENST00000221930.5:c.893T>C	ENSP00000221930.4:p.Leu298Pro
ENST00000598758.5:c.181T>C
ENST00000600196.1:n.205T>C
NM_000660.5:c.893T>C	NP_000651.3:p.Leu298Pro
XM_011527242.1:c.896T>C	XP_011525544.1:p.Leu299Pro
NM_000660.6:c.893T>C	NP_000651.3:p.Leu298Pro
XM_011527242.2:c.896T>C	XP_011525544.1:p.Leu299Pro
NM_000660.7:c.893T>C MANE Select	NP_000651.3:p.Leu298Pro