Canonical Allele Identifier: CA405999724

Gene: TGFB1

Linked Data

• MyVariant Identifiers: chr19:g.41847933A>C (hg19) ; chr19:g.41342028A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342028A>C , CM000681.2:g.41342028A>C	GRCh38
NC_000019.9:g.41847933A>C , CM000681.1:g.41847933A>C	GRCh37
NC_000019.8:g.46539773A>C	NCBI36
NG_013364.1:g.16899T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.715T>G MANE Select	ENSP00000221930.4:p.Phe239Val
ENST00000600196.2:c.712+142T>G	ENSP00000504008.1:n.712+142T>G
ENST00000677934.1:c.634+2719T>G	ENSP00000504769.1:n.634+2719T>G
ENST00000221930.5:c.715T>G	ENSP00000221930.4:p.Phe239Val
ENST00000597453.1:n.385T>G
ENST00000598758.5:c.3T>G
ENST00000600196.1:n.172+142T>G
NM_000660.5:c.715T>G	NP_000651.3:p.Phe239Val
XM_011527242.1:c.718T>G	XP_011525544.1:p.Phe240Val
NM_000660.6:c.715T>G	NP_000651.3:p.Phe239Val
XM_011527242.2:c.718T>G	XP_011525544.1:p.Phe240Val
NM_000660.7:c.715T>G MANE Select	NP_000651.3:p.Phe239Val