Canonical Allele Identifier: CA341204

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 12533
• ClinVar RCV Id: RCV000013359
• dbSNP Id: rs104894722
• gnomAD v4: 19-41342215-A-G
• MyVariant Identifiers: chr19:g.41848120A>G (hg19) ; chr19:g.41342215A>G (hg38)
• PubMed: PMID:15103729 ; PMID:20301335

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342215A>G , CM000681.2:g.41342215A>G	GRCh38
NC_000019.9:g.41848120A>G , CM000681.1:g.41848120A>G	GRCh37
NC_000019.8:g.46539960A>G	NCBI36
NG_013364.1:g.16712T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.667T>C MANE Select	ENSP00000221930.4:p.Cys223Arg
ENST00000600196.2:c.667T>C	ENSP00000504008.1:p.Cys223Arg
ENST00000677934.1:c.634+2532T>C	ENSP00000504769.1:n.634+2532T>C
ENST00000221930.5:c.667T>C	ENSP00000221930.4:p.Cys223Arg
ENST00000597453.1:n.198T>C
ENST00000600196.1:n.127T>C
NM_000660.5:c.667T>C	NP_000651.3:p.Cys223Arg
XM_011527242.1:c.667T>C	XP_011525544.1:p.Cys223Arg
NM_000660.6:c.667T>C	NP_000651.3:p.Cys223Arg
XM_011527242.2:c.667T>C	XP_011525544.1:p.Cys223Arg
NM_000660.7:c.667T>C MANE Select	NP_000651.3:p.Cys223Arg