Canonical Allele Identifier: CA203025
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197687
ClinVar RCV Id: RCV000178793 RCV001515239
dbSNP Id: rs55659002
ExAC: 19:41847942 TG / T
gnomAD v2: 19-41847942-TG-T
gnomAD v3: 19-41342037-TG-T
gnomAD v4: 19-41342037-TG-T
COSMIC: COSM1684582
MyVariant Identifiers: chr19:g.41847944del (hg19) chr19:g.41847943del (hg19) chr19:g.41342039del (hg38) chr19:g.41342038del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342039del , CM000681.2:g.41342039del GRCh38
NC_000019.9:g.41847944del , CM000681.1:g.41847944del GRCh37
NC_000019.8:g.46539784del NCBI36
NG_013364.1:g.16889del

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.713-8del MANE Select ENSP00000221930.4:n.713-8del
ENST00000600196.2:c.712+132del ENSP00000504008.1:n.712+132del
ENST00000677934.1:c.634+2709del ENSP00000504769.1:n.634+2709del
ENST00000221930.5:c.713-8del ENSP00000221930.4:n.713-8del
ENST00000597453.1:n.375del
ENST00000600196.1:n.172+132del
NM_000660.5:c.713-8del NP_000651.3:n.713-8del
XM_011527242.1:c.713-5del XP_011525544.1:n.713-5del
NM_000660.6:c.713-8del NP_000651.3:n.713-8del
XM_011527242.2:c.713-5del XP_011525544.1:n.713-5del
NM_000660.7:c.713-8del MANE Select NP_000651.3:n.713-8del
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