Canonical Allele Identifier: CA507689709
Gene: TGFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41848136A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342231A>G , CM000681.2:g.41342231A>G GRCh38
NC_000019.9:g.41848136A>G , CM000681.1:g.41848136A>G GRCh37
NC_000019.8:g.46539976A>G NCBI36
NG_013364.1:g.16696T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.651T>C MANE Select ENSP00000221930.4:p.Phe217=
ENST00000600196.2:c.651T>C ENSP00000504008.1:p.Phe217=
ENST00000677934.1:c.634+2516T>C ENSP00000504769.1:n.634+2516T>C
ENST00000221930.5:c.651T>C ENSP00000221930.4:p.Phe217=
ENST00000597453.1:n.182T>C
ENST00000600196.1:n.111T>C
NM_000660.5:c.651T>C NP_000651.3:p.Phe217=
XM_011527242.1:c.651T>C XP_011525544.1:p.Phe217=
NM_000660.6:c.651T>C NP_000651.3:p.Phe217=
XM_011527242.2:c.651T>C XP_011525544.1:p.Phe217=
NM_000660.7:c.651T>C MANE Select NP_000651.3:p.Phe217=