Canonical Allele Identifier: CA341194
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12528
ClinVar RCV Id: RCV000013354
dbSNP Id: rs104894719

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342209A>G , CM000681.2:g.41342209A>G GRCh38
NC_000019.9:g.41848114A>G , CM000681.1:g.41848114A>G GRCh37
NC_000019.8:g.46539954A>G NCBI36
NG_013364.1:g.16718T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.673T>C MANE Select ENSP00000221930.4:p.Cys225Arg
ENST00000600196.2:n.673T>C ENSP00000504008.1:p.Cys225Arg
ENST00000677934.1:n.634+2538T>C ENSP00000504769.1:p.=
ENST00000221930.5:c.673T>C ENSP00000221930.4:p.Cys225Arg
NM_000660.5:c.673T>C NP_000651.3:p.Cys225Arg
XM_011527242.1:c.673T>C XP_011525544.1:p.Cys225Arg
NM_000660.6:c.673T>C NP_000651.3:p.Cys225Arg
XM_011527242.2:c.673T>C XP_011525544.1:p.Cys225Arg
NM_000660.7:c.673T>C MANE Select NP_000651.3:p.Cys225Arg