Canonical Allele Identifier: CA308515202
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1288925
ClinVar RCV Id: RCV001709372
dbSNP Id: rs2241716

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348181C>T , CM000681.2:g.41348181C>T GRCh38
NC_000019.9:g.41854086C>T , CM000681.1:g.41854086C>T GRCh37
NC_000019.8:g.46545926C>T NCBI36
NG_013364.1:g.10746G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.516+114G>A MANE Select ENSP00000221930.4:n.516+114G>A
ENST00000600196.2:c.516+114G>A ENSP00000504008.1:n.516+114G>A
ENST00000677934.1:c.516+114G>A ENSP00000504769.1:n.516+114G>A
ENST00000221930.5:c.516+114G>A ENSP00000221930.4:n.516+114G>A
ENST00000597453.1:n.47+114G>A
NM_000660.5:c.516+114G>A NP_000651.3:n.516+114G>A
XM_011527242.1:c.516+114G>A XP_011525544.1:n.516+114G>A
NM_000660.6:c.516+114G>A NP_000651.3:n.516+114G>A
XM_011527242.2:c.516+114G>A XP_011525544.1:n.516+114G>A
NM_000660.7:c.516+114G>A MANE Select NP_000651.3:n.516+114G>A