Canonical Allele Identifier: CA995960731

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038135355
• gnomAD v3: 19-41347931-A-G
• gnomAD v4: 19-41347931-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41347931A>G , CM000681.2:g.41347931A>G	GRCh38
NC_000019.9:g.41853836A>G , CM000681.1:g.41853836A>G	GRCh37
NC_000019.8:g.46545676A>G	NCBI36
NG_013364.1:g.10996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+364T>C MANE Select	ENSP00000221930.4:n.516+364T>C
ENST00000600196.2:c.516+364T>C	ENSP00000504008.1:n.516+364T>C
ENST00000677934.1:c.516+364T>C	ENSP00000504769.1:n.516+364T>C
ENST00000221930.5:c.516+364T>C	ENSP00000221930.4:n.516+364T>C
ENST00000597453.1:n.47+364T>C
NM_000660.5:c.516+364T>C	NP_000651.3:n.516+364T>C
XM_011527242.1:c.516+364T>C	XP_011525544.1:n.516+364T>C
NM_000660.6:c.516+364T>C	NP_000651.3:n.516+364T>C
XM_011527242.2:c.516+364T>C	XP_011525544.1:n.516+364T>C
NM_000660.7:c.516+364T>C MANE Select	NP_000651.3:n.516+364T>C