Canonical Allele Identifier: CA882319758
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1669549
ClinVar RCV Id: RCV002198616
dbSNP Id: rs1477276509

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348276T>G , CM000681.2:g.41348276T>G GRCh38
NC_000019.9:g.41854181T>G , CM000681.1:g.41854181T>G GRCh37
NC_000019.8:g.46546021T>G NCBI36
NG_013364.1:g.10651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.516+19A>C MANE Select ENSP00000221930.4:n.516+19A>C
ENST00000600196.2:c.516+19A>C ENSP00000504008.1:n.516+19A>C
ENST00000677934.1:c.516+19A>C ENSP00000504769.1:n.516+19A>C
ENST00000221930.5:c.516+19A>C ENSP00000221930.4:n.516+19A>C
ENST00000597453.1:n.47+19A>C
NM_000660.5:c.516+19A>C NP_000651.3:n.516+19A>C
XM_011527242.1:c.516+19A>C XP_011525544.1:n.516+19A>C
NM_000660.6:c.516+19A>C NP_000651.3:n.516+19A>C
XM_011527242.2:c.516+19A>C XP_011525544.1:n.516+19A>C
NM_000660.7:c.516+19A>C MANE Select NP_000651.3:n.516+19A>C