Canonical Allele Identifier: CA308511019

Gene: TGFB1

Linked Data

• dbSNP Id: rs374149201
• gnomAD v2: 19-41848379-C-CGA
• gnomAD v3: 19-41342474-C-CGA
• gnomAD v4: 19-41342474-C-CGA
• MyVariant Identifiers: chr19:g.41848379_41848380insGA (hg19) ; chr19:g.41342474_41342475insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342476_41342477dup , CM000681.2:g.41342476_41342477dup	GRCh38
NC_000019.9:g.41848381_41848382dup , CM000681.1:g.41848381_41848382dup	GRCh37
NC_000019.8:g.46540221_46540222dup	NCBI36
NG_013364.1:g.16451_16452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-229_635-228dup MANE Select	ENSP00000221930.4:n.635-229_635-228dup
ENST00000600196.2:c.635-229_635-228dup	ENSP00000504008.1:n.635-229_635-228dup
ENST00000677934.1:c.634+2271_634+2272dup	ENSP00000504769.1:n.634+2271_634+2272dup
ENST00000221930.5:c.635-229_635-228dup	ENSP00000221930.4:n.635-229_635-228dup
ENST00000597453.1:n.166-229_166-228dup
ENST00000600196.1:n.95-229_95-228dup
NM_000660.5:c.635-229_635-228dup	NP_000651.3:n.635-229_635-228dup
XM_011527242.1:c.635-229_635-228dup	XP_011525544.1:n.635-229_635-228dup
NM_000660.6:c.635-229_635-228dup	NP_000651.3:n.635-229_635-228dup
XM_011527242.2:c.635-229_635-228dup	XP_011525544.1:n.635-229_635-228dup
NM_000660.7:c.635-229_635-228dup MANE Select	NP_000651.3:n.635-229_635-228dup