Canonical Allele Identifier: CA2336423883

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038138814
• gnomAD v4: 19-41348171-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348171T>A , CM000681.2:g.41348171T>A	GRCh38
NC_000019.9:g.41854076T>A , CM000681.1:g.41854076T>A	GRCh37
NC_000019.8:g.46545916T>A	NCBI36
NG_013364.1:g.10756A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+124A>T MANE Select	ENSP00000221930.4:n.516+124A>T
ENST00000600196.2:c.516+124A>T	ENSP00000504008.1:n.516+124A>T
ENST00000677934.1:c.516+124A>T	ENSP00000504769.1:n.516+124A>T
ENST00000221930.5:c.516+124A>T	ENSP00000221930.4:n.516+124A>T
ENST00000597453.1:n.47+124A>T
NM_000660.5:c.516+124A>T	NP_000651.3:n.516+124A>T
XM_011527242.1:c.516+124A>T	XP_011525544.1:n.516+124A>T
NM_000660.6:c.516+124A>T	NP_000651.3:n.516+124A>T
XM_011527242.2:c.516+124A>T	XP_011525544.1:n.516+124A>T
NM_000660.7:c.516+124A>T MANE Select	NP_000651.3:n.516+124A>T