Canonical Allele Identifier: CA406003723

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41348407-A-T
• MyVariant Identifiers: chr19:g.41854312A>T (hg19) ; chr19:g.41348407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348407A>T , CM000681.2:g.41348407A>T	GRCh38
NC_000019.9:g.41854312A>T , CM000681.1:g.41854312A>T	GRCh37
NC_000019.8:g.46546152A>T	NCBI36
NG_013364.1:g.10520T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.404T>A MANE Select	ENSP00000221930.4:p.Phe135Tyr
ENST00000600196.2:c.404T>A	ENSP00000504008.1:p.Phe135Tyr
ENST00000677934.1:c.404T>A	ENSP00000504769.1:p.Phe135Tyr
ENST00000221930.5:c.404T>A	ENSP00000221930.4:p.Phe135Tyr
NM_000660.5:c.404T>A	NP_000651.3:p.Phe135Tyr
XM_011527242.1:c.404T>A	XP_011525544.1:p.Phe135Tyr
NM_000660.6:c.404T>A	NP_000651.3:p.Phe135Tyr
XM_011527242.2:c.404T>A	XP_011525544.1:p.Phe135Tyr
NM_000660.7:c.404T>A MANE Select	NP_000651.3:p.Phe135Tyr