Canonical Allele Identifier: CA2576793315

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41348223-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348223C>A , CM000681.2:g.41348223C>A	GRCh38
NC_000019.9:g.41854128C>A , CM000681.1:g.41854128C>A	GRCh37
NC_000019.8:g.46545968C>A	NCBI36
NG_013364.1:g.10704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+72G>T MANE Select	ENSP00000221930.4:n.516+72G>T
ENST00000600196.2:c.516+72G>T	ENSP00000504008.1:n.516+72G>T
ENST00000677934.1:c.516+72G>T	ENSP00000504769.1:n.516+72G>T
ENST00000221930.5:c.516+72G>T	ENSP00000221930.4:n.516+72G>T
ENST00000597453.1:n.47+72G>T
NM_000660.5:c.516+72G>T	NP_000651.3:n.516+72G>T
XM_011527242.1:c.516+72G>T	XP_011525544.1:n.516+72G>T
NM_000660.6:c.516+72G>T	NP_000651.3:n.516+72G>T
XM_011527242.2:c.516+72G>T	XP_011525544.1:n.516+72G>T
NM_000660.7:c.516+72G>T MANE Select	NP_000651.3:n.516+72G>T