Canonical Allele Identifier: CA308569650
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2767837
ClinVar RCV Id: RCV003574093
dbSNP Id: rs201327622
gnomAD v3: 19-41342221-C-T
gnomAD v4: 19-41342221-C-T
COSMIC: COSM3226978
MyVariant Identifiers: chr19:g.41848126C>T (hg19) chr19:g.41342221C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342221C>T , CM000681.2:g.41342221C>T GRCh38
NC_000019.9:g.41848126C>T , CM000681.1:g.41848126C>T GRCh37
NC_000019.8:g.46539966C>T NCBI36
NG_013364.1:g.16706G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.661G>A MANE Select ENSP00000221930.4:p.Ala221Thr
ENST00000600196.2:c.661G>A ENSP00000504008.1:p.Ala221Thr
ENST00000677934.1:c.634+2526G>A ENSP00000504769.1:n.634+2526G>A
ENST00000221930.5:c.661G>A ENSP00000221930.4:p.Ala221Thr
ENST00000597453.1:n.192G>A
ENST00000600196.1:n.121G>A
NM_000660.5:c.661G>A NP_000651.3:p.Ala221Thr
XM_011527242.1:c.661G>A XP_011525544.1:p.Ala221Thr
NM_000660.6:c.661G>A NP_000651.3:p.Ala221Thr
XM_011527242.2:c.661G>A XP_011525544.1:p.Ala221Thr
NM_000660.7:c.661G>A MANE Select NP_000651.3:p.Ala221Thr
Search 100 bp 5'
Search 100 bp 3'