Canonical Allele Identifier: CA308569298

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 1670041
• ClinVar RCV Id: RCV002201220
• dbSNP Id: rs1056983716
• MyVariant Identifiers: chr19:g.41847859G>T (hg19) ; chr19:g.41341954G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341954G>T , CM000681.2:g.41341954G>T	GRCh38
NC_000019.9:g.41847859G>T , CM000681.1:g.41847859G>T	GRCh37
NC_000019.8:g.46539699G>T	NCBI36
NG_013364.1:g.16973C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.789C>A MANE Select	ENSP00000221930.4:p.Thr263=
ENST00000600196.2:c.712+216C>A	ENSP00000504008.1:n.712+216C>A
ENST00000677934.1:c.634+2793C>A	ENSP00000504769.1:n.634+2793C>A
ENST00000221930.5:c.789C>A	ENSP00000221930.4:p.Thr263=
ENST00000598758.5:c.77C>A
ENST00000600196.1:n.172+216C>A
NM_000660.5:c.789C>A	NP_000651.3:p.Thr263=
XM_011527242.1:c.792C>A	XP_011525544.1:p.Thr264=
NM_000660.6:c.789C>A	NP_000651.3:p.Thr263=
XM_011527242.2:c.792C>A	XP_011525544.1:p.Thr264=
NM_000660.7:c.789C>A MANE Select	NP_000651.3:p.Thr263=