Canonical Allele Identifier: CA995961006

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038137918
• gnomAD v3: 19-41348128-CT-C
• gnomAD v4: 19-41348128-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348129del , CM000681.2:g.41348129del	GRCh38
NC_000019.9:g.41854034del , CM000681.1:g.41854034del	GRCh37
NC_000019.8:g.46545874del	NCBI36
NG_013364.1:g.10798del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.516+166del MANE Select	ENSP00000221930.4:n.516+166del
ENST00000600196.2:c.516+166del	ENSP00000504008.1:n.516+166del
ENST00000677934.1:c.516+166del	ENSP00000504769.1:n.516+166del
ENST00000221930.5:c.516+166del	ENSP00000221930.4:n.516+166del
ENST00000597453.1:n.47+166del
NM_000660.5:c.516+166del	NP_000651.3:n.516+166del
XM_011527242.1:c.516+166del	XP_011525544.1:n.516+166del
NM_000660.6:c.516+166del	NP_000651.3:n.516+166del
XM_011527242.2:c.516+166del	XP_011525544.1:n.516+166del
NM_000660.7:c.516+166del MANE Select	NP_000651.3:n.516+166del