Canonical Allele Identifier: CA995955742

Gene: TGFB1

Linked Data

• dbSNP Id: rs55678429
• gnomAD v3: 19-41342390-C-CTTTTT
• gnomAD v4: 19-41342390-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342409_41342413dup , CM000681.2:g.41342409_41342413dup	GRCh38
NC_000019.9:g.41848314_41848318dup , CM000681.1:g.41848314_41848318dup	GRCh37
NC_000019.8:g.46540154_46540158dup	NCBI36
NG_013364.1:g.16532_16536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-148_635-144dup MANE Select	ENSP00000221930.4:n.635-148_635-144dup
ENST00000600196.2:c.635-148_635-144dup	ENSP00000504008.1:n.635-148_635-144dup
ENST00000677934.1:c.634+2352_634+2356dup	ENSP00000504769.1:n.634+2352_634+2356dup
ENST00000221930.5:c.635-148_635-144dup	ENSP00000221930.4:n.635-148_635-144dup
ENST00000597453.1:n.166-148_166-144dup
ENST00000600196.1:n.95-148_95-144dup
NM_000660.5:c.635-148_635-144dup	NP_000651.3:n.635-148_635-144dup
XM_011527242.1:c.635-148_635-144dup	XP_011525544.1:n.635-148_635-144dup
NM_000660.6:c.635-148_635-144dup	NP_000651.3:n.635-148_635-144dup
XM_011527242.2:c.635-148_635-144dup	XP_011525544.1:n.635-148_635-144dup
NM_000660.7:c.635-148_635-144dup MANE Select	NP_000651.3:n.635-148_635-144dup