Canonical Allele Identifier: CA507689827
Gene: TGFB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.41847790G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341885G>A , CM000681.2:g.41341885G>A GRCh38
NC_000019.9:g.41847790G>A , CM000681.1:g.41847790G>A GRCh37
NC_000019.8:g.46539630G>A NCBI36
NG_013364.1:g.17042C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.858C>T MANE Select ENSP00000221930.4:p.Phe286=
ENST00000600196.2:c.712+285C>T ENSP00000504008.1:n.712+285C>T
ENST00000677934.1:c.634+2862C>T ENSP00000504769.1:n.634+2862C>T
ENST00000221930.5:c.858C>T ENSP00000221930.4:p.Phe286=
ENST00000598758.5:c.146C>T
ENST00000600196.1:n.172+285C>T
NM_000660.5:c.858C>T NP_000651.3:p.Phe286=
XM_011527242.1:c.861C>T XP_011525544.1:p.Phe287=
NM_000660.6:c.858C>T NP_000651.3:p.Phe286=
XM_011527242.2:c.861C>T XP_011525544.1:p.Phe287=
NM_000660.7:c.858C>T MANE Select NP_000651.3:p.Phe286=