Canonical Allele Identifier: CA341196
Gene: TGFB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12529
ClinVar RCV Id: RCV000013355
dbSNP Id: rs104894720

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342229C>T , CM000681.2:g.41342229C>T GRCh38
NC_000019.8:g.46539974C>T NCBI36
NC_000019.9:g.41848134C>T , CM000681.1:g.41848134C>T GRCh37
NG_013364.1:g.16698G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.5:c.653G>A ENSP00000221930.4:p.Arg218His
ENST00000597453.1:n.184G>A
ENST00000600196.1:n.113G>A
NM_000660.5:c.653G>A VV NP_000651.3:p.Arg218His
XM_011527242.1:c.653G>A XP_011525544.1:p.Arg218His