Canonical Allele Identifier: CA308515202
Gene: TGFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41348181C>T
GRCh37 chr19:g.41854086C>T
gnomAD v2:
19:41854086 C / T
gnomAD v3:
19:41348181 C / T
gnomAD v4:
chr19-41348181-C-T
Joint Max Group AF 0.325752 (EAS)
Genomes Max Group AF 0.28563977 (EAS)
Exomes Max Group AF 0.32988824 (EAS)
ClinVar RCV:
RCV001709372
ClinVar Variation:
1288925
dbSNP:
2241716
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348181C>T , CM000681.2:g.41348181C>T GRCh38
NC_000019.9:g.41854086C>T , CM000681.1:g.41854086C>T GRCh37
NC_000019.8:g.46545926C>T NCBI36
NG_013364.1:g.10746G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.516+114G>A MANE Select ENSP00000221930.4:n.516+114G>A
ENST00000600196.2:c.516+114G>A ENSP00000504008.1:n.516+114G>A
ENST00000677934.1:c.516+114G>A ENSP00000504769.1:n.516+114G>A
ENST00000221930.5:c.516+114G>A ENSP00000221930.4:n.516+114G>A
ENST00000597453.1:n.47+114G>A
NM_000660.5:c.516+114G>A NP_000651.3:n.516+114G>A
XM_011527242.1:c.516+114G>A XP_011525544.1:n.516+114G>A
NM_000660.6:c.516+114G>A NP_000651.3:n.516+114G>A
XM_011527242.2:c.516+114G>A XP_011525544.1:n.516+114G>A
NM_000660.7:c.516+114G>A MANE Select NP_000651.3:n.516+114G>A
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