Canonical Allele Identifier: CA341200
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12531
ClinVar RCV Id: RCV000013357 RCV001794443 RCV003156058
dbSNP Id: rs104894721
gnomAD v4: 19-41342230-G-A
MyVariant Identifiers: chr19:g.41848135G>A (hg19) chr19:g.41342230G>A (hg38)
PubMed: PMID:10973241 PMID:11062463 PMID:12843182 PMID:15103729 PMID:20301335
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342230G>A , CM000681.2:g.41342230G>A GRCh38
NC_000019.9:g.41848135G>A , CM000681.1:g.41848135G>A GRCh37
NC_000019.8:g.46539975G>A NCBI36
NG_013364.1:g.16697C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.652C>T MANE Select ENSP00000221930.4:p.Arg218Cys
ENST00000600196.2:c.652C>T ENSP00000504008.1:p.Arg218Cys
ENST00000677934.1:c.634+2517C>T ENSP00000504769.1:n.634+2517C>T
ENST00000221930.5:c.652C>T ENSP00000221930.4:p.Arg218Cys
ENST00000597453.1:n.183C>T
ENST00000600196.1:n.112C>T
NM_000660.5:c.652C>T NP_000651.3:p.Arg218Cys
XM_011527242.1:c.652C>T XP_011525544.1:p.Arg218Cys
NM_000660.6:c.652C>T NP_000651.3:p.Arg218Cys
XM_011527242.2:c.652C>T XP_011525544.1:p.Arg218Cys
NM_000660.7:c.652C>T MANE Select NP_000651.3:p.Arg218Cys
Search 100 bp 5'
Search 100 bp 3'