Canonical Allele Identifier: CA406003710
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2706096
ClinVar RCV Id: RCV003577652
dbSNP Id: rs1453070595
gnomAD v2: 19-41854306-G-T
gnomAD v4: 19-41348401-G-T
MyVariant Identifiers: chr19:g.41854306G>T (hg19) chr19:g.41348401G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348401G>T , CM000681.2:g.41348401G>T GRCh38
NC_000019.9:g.41854306G>T , CM000681.1:g.41854306G>T GRCh37
NC_000019.8:g.46546146G>T NCBI36
NG_013364.1:g.10526C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.410C>A MANE Select ENSP00000221930.4:p.Thr137Lys
ENST00000600196.2:c.410C>A ENSP00000504008.1:p.Thr137Lys
ENST00000677934.1:c.410C>A ENSP00000504769.1:p.Thr137Lys
ENST00000221930.5:c.410C>A ENSP00000221930.4:p.Thr137Lys
NM_000660.5:c.410C>A NP_000651.3:p.Thr137Lys
XM_011527242.1:c.410C>A XP_011525544.1:p.Thr137Lys
NM_000660.6:c.410C>A NP_000651.3:p.Thr137Lys
XM_011527242.2:c.410C>A XP_011525544.1:p.Thr137Lys
NM_000660.7:c.410C>A MANE Select NP_000651.3:p.Thr137Lys
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