Canonical Allele Identifier: CA9459983
Gene: TGFB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1653493
ClinVar RCV Id: RCV002161161
dbSNP Id: rs201119217
ExAC: 19:41847817 G / C
gnomAD v2: 19-41847817-G-C
gnomAD v3: 19-41341912-G-C
gnomAD v4: 19-41341912-G-C
MyVariant Identifiers: chr19:g.41847817G>C (hg19) chr19:g.41341912G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41341912G>C , CM000681.2:g.41341912G>C GRCh38
NC_000019.9:g.41847817G>C , CM000681.1:g.41847817G>C GRCh37
NC_000019.8:g.46539657G>C NCBI36
NG_013364.1:g.17015C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.831C>G MANE Select ENSP00000221930.4:p.Arg277=
ENST00000600196.2:c.712+258C>G ENSP00000504008.1:n.712+258C>G
ENST00000677934.1:c.634+2835C>G ENSP00000504769.1:n.634+2835C>G
ENST00000221930.5:c.831C>G ENSP00000221930.4:p.Arg277=
ENST00000598758.5:c.119C>G
ENST00000600196.1:n.172+258C>G
NM_000660.5:c.831C>G NP_000651.3:p.Arg277=
XM_011527242.1:c.834C>G XP_011525544.1:p.Arg278=
NM_000660.6:c.831C>G NP_000651.3:p.Arg277=
XM_011527242.2:c.834C>G XP_011525544.1:p.Arg278=
NM_000660.7:c.831C>G MANE Select NP_000651.3:p.Arg277=
Search 100 bp 5'
Search 100 bp 3'