Canonical Allele Identifier: CA406000091
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2027801
ClinVar RCV Id: RCV002866799
gnomAD v4: 19-41342249-T-C
MyVariant Identifiers: chr19:g.41848154T>C (hg19) chr19:g.41342249T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342249T>C , CM000681.2:g.41342249T>C GRCh38
NC_000019.9:g.41848154T>C , CM000681.1:g.41848154T>C GRCh37
NC_000019.8:g.46539994T>C NCBI36
NG_013364.1:g.16678A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.635-2A>G MANE Select ENSP00000221930.4:n.635-2A>G
ENST00000600196.2:c.635-2A>G ENSP00000504008.1:n.635-2A>G
ENST00000677934.1:c.634+2498A>G ENSP00000504769.1:n.634+2498A>G
ENST00000221930.5:c.635-2A>G ENSP00000221930.4:n.635-2A>G
ENST00000597453.1:n.166-2A>G
ENST00000600196.1:n.95-2A>G
NM_000660.5:c.635-2A>G NP_000651.3:n.635-2A>G
XM_011527242.1:c.635-2A>G XP_011525544.1:n.635-2A>G
NM_000660.6:c.635-2A>G NP_000651.3:n.635-2A>G
XM_011527242.2:c.635-2A>G XP_011525544.1:n.635-2A>G
NM_000660.7:c.635-2A>G MANE Select NP_000651.3:n.635-2A>G
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