Canonical Allele Identifier: CA507689915
Gene: TGFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41847841C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341936C>T , CM000681.2:g.41341936C>T GRCh38
NC_000019.9:g.41847841C>T , CM000681.1:g.41847841C>T GRCh37
NC_000019.8:g.46539681C>T NCBI36
NG_013364.1:g.16991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.807G>A MANE Select ENSP00000221930.4:p.Gln269=
ENST00000600196.2:c.712+234G>A ENSP00000504008.1:n.712+234G>A
ENST00000677934.1:c.634+2811G>A ENSP00000504769.1:n.634+2811G>A
ENST00000221930.5:c.807G>A ENSP00000221930.4:p.Gln269=
ENST00000598758.5:c.95G>A
ENST00000600196.1:n.172+234G>A
NM_000660.5:c.807G>A NP_000651.3:p.Gln269=
XM_011527242.1:c.810G>A XP_011525544.1:p.Gln270=
NM_000660.6:c.807G>A NP_000651.3:p.Gln269=
XM_011527242.2:c.810G>A XP_011525544.1:p.Gln270=
NM_000660.7:c.807G>A MANE Select NP_000651.3:p.Gln269=