Canonical Allele Identifier: CA405999304

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 2114206
• ClinVar RCV Id: RCV003029930
• dbSNP Id: rs1274564517
• gnomAD v2: 19-41847819-G-A
• gnomAD v4: 19-41341914-G-A
• COSMIC: COSM1393958
• MyVariant Identifiers: chr19:g.41847819G>A (hg19) ; chr19:g.41341914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341914G>A , CM000681.2:g.41341914G>A	GRCh38
NC_000019.9:g.41847819G>A , CM000681.1:g.41847819G>A	GRCh37
NC_000019.8:g.46539659G>A	NCBI36
NG_013364.1:g.17013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.829C>T MANE Select	ENSP00000221930.4:p.Arg277Cys
ENST00000600196.2:c.712+256C>T	ENSP00000504008.1:n.712+256C>T
ENST00000677934.1:c.634+2833C>T	ENSP00000504769.1:n.634+2833C>T
ENST00000221930.5:c.829C>T	ENSP00000221930.4:p.Arg277Cys
ENST00000598758.5:c.117C>T
ENST00000600196.1:n.172+256C>T
NM_000660.5:c.829C>T	NP_000651.3:p.Arg277Cys
XM_011527242.1:c.832C>T	XP_011525544.1:p.Arg278Cys
NM_000660.6:c.829C>T	NP_000651.3:p.Arg277Cys
XM_011527242.2:c.832C>T	XP_011525544.1:p.Arg278Cys
NM_000660.7:c.829C>T MANE Select	NP_000651.3:p.Arg277Cys