Canonical Allele Identifier: CA633167495
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1201092
ClinVar RCV Id: RCV001566316
dbSNP Id: rs11347492
gnomAD v2: 19-41854035-C-CA
gnomAD v3: 19-41348130-C-CA
gnomAD v4: 19-41348130-C-CA
MyVariant Identifiers: chr19:g.41854039_41854040insA (hg19) chr19:g.41854035_41854036insA (hg19) chr19:g.41348134_41348135insA (hg38) chr19:g.41348130_41348131insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348145dup , CM000681.2:g.41348145dup GRCh38
NC_000019.9:g.41854050dup , CM000681.1:g.41854050dup GRCh37
NC_000019.8:g.46545890dup NCBI36
NG_013364.1:g.10796dup

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.516+164dup MANE Select ENSP00000221930.4:n.516+164dup
ENST00000600196.2:c.516+164dup ENSP00000504008.1:n.516+164dup
ENST00000677934.1:c.516+164dup ENSP00000504769.1:n.516+164dup
ENST00000221930.5:c.516+164dup ENSP00000221930.4:n.516+164dup
ENST00000597453.1:n.47+164dup
NM_000660.5:c.516+164dup NP_000651.3:n.516+164dup
XM_011527242.1:c.516+164dup XP_011525544.1:n.516+164dup
NM_000660.6:c.516+164dup NP_000651.3:n.516+164dup
XM_011527242.2:c.516+164dup XP_011525544.1:n.516+164dup
NM_000660.7:c.516+164dup MANE Select NP_000651.3:n.516+164dup
Search 100 bp 5'
Search 100 bp 3'