Canonical Allele Identifier: CA308569278

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 1936859
• ClinVar RCV Id: RCV002652983
• dbSNP Id: rs201119217
• gnomAD v2: 19-41847817-G-A
• gnomAD v4: 19-41341912-G-A
• MyVariant Identifiers: chr19:g.41847817G>A (hg19) ; chr19:g.41341912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341912G>A , CM000681.2:g.41341912G>A	GRCh38
NC_000019.9:g.41847817G>A , CM000681.1:g.41847817G>A	GRCh37
NC_000019.8:g.46539657G>A	NCBI36
NG_013364.1:g.17015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.831C>T MANE Select	ENSP00000221930.4:p.Arg277=
ENST00000600196.2:c.712+258C>T	ENSP00000504008.1:n.712+258C>T
ENST00000677934.1:c.634+2835C>T	ENSP00000504769.1:n.634+2835C>T
ENST00000221930.5:c.831C>T	ENSP00000221930.4:p.Arg277=
ENST00000598758.5:c.119C>T
ENST00000600196.1:n.172+258C>T
NM_000660.5:c.831C>T	NP_000651.3:p.Arg277=
XM_011527242.1:c.834C>T	XP_011525544.1:p.Arg278=
NM_000660.6:c.831C>T	NP_000651.3:p.Arg277=
XM_011527242.2:c.834C>T	XP_011525544.1:p.Arg278=
NM_000660.7:c.831C>T MANE Select	NP_000651.3:p.Arg277=