Canonical Allele Identifier: CA308515132
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1274979
ClinVar RCV Id: RCV001679218
dbSNP Id: rs11347492
gnomAD v2: 19-41854035-CA-C
gnomAD v3: 19-41348130-CA-C
gnomAD v4: 19-41348130-CA-C
MyVariant Identifiers: chr19:g.41854039del (hg19) chr19:g.41854036del (hg19) chr19:g.41348134del (hg38) chr19:g.41348131del (hg38)
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Genomic Alleles

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

Transcript Alleles

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