Canonical Allele Identifier: CA308569266
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 753940
ClinVar RCV Id: RCV000931226
dbSNP Id: rs1025241895
gnomAD v2: 19-41847811-G-T
gnomAD v3: 19-41341906-G-T
gnomAD v4: 19-41341906-G-T
MyVariant Identifiers: chr19:g.41847811G>T (hg19) chr19:g.41341906G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341906G>T , CM000681.2:g.41341906G>T GRCh38
NC_000019.9:g.41847811G>T , CM000681.1:g.41847811G>T GRCh37
NC_000019.8:g.46539651G>T NCBI36
NG_013364.1:g.17021C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.837C>A MANE Select ENSP00000221930.4:p.Ala279=
ENST00000600196.2:c.712+264C>A ENSP00000504008.1:n.712+264C>A
ENST00000677934.1:c.634+2841C>A ENSP00000504769.1:n.634+2841C>A
ENST00000221930.5:c.837C>A ENSP00000221930.4:p.Ala279=
ENST00000598758.5:c.125C>A
ENST00000600196.1:n.172+264C>A
NM_000660.5:c.837C>A NP_000651.3:p.Ala279=
XM_011527242.1:c.840C>A XP_011525544.1:p.Ala280=
NM_000660.6:c.837C>A NP_000651.3:p.Ala279=
XM_011527242.2:c.840C>A XP_011525544.1:p.Ala280=
NM_000660.7:c.837C>A MANE Select NP_000651.3:p.Ala279=
Search 100 bp 5'
Search 100 bp 3'