Canonical Allele Identifier: CA9460083
Gene: TGFB1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41348306C>G
GRCh37 chr19:g.41854211C>G
Revel Score:
ENST00000221930 (MANE Select) 0.444
gnomAD v4:
chr19-41348306-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV002591026
ClinVar Variation:
1920186
dbSNP:
281865484
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41348306C>G , CM000681.2:g.41348306C>G GRCh38
NC_000019.9:g.41854211C>G , CM000681.1:g.41854211C>G GRCh37
NC_000019.8:g.46546051C>G NCBI36
NG_013364.1:g.10621G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.505G>C MANE Select ENSP00000221930.4:p.Glu169Gln
ENST00000600196.2:c.505G>C ENSP00000504008.1:p.Glu169Gln
ENST00000677934.1:c.505G>C ENSP00000504769.1:p.Glu169Gln
ENST00000221930.5:c.505G>C ENSP00000221930.4:p.Glu169Gln
ENST00000597453.1:n.36G>C
NM_000660.5:c.505G>C NP_000651.3:p.Glu169Gln
XM_011527242.1:c.505G>C XP_011525544.1:p.Glu169Gln
NM_000660.6:c.505G>C NP_000651.3:p.Glu169Gln
XM_011527242.2:c.505G>C XP_011525544.1:p.Glu169Gln
NM_000660.7:c.505G>C MANE Select NP_000651.3:p.Glu169Gln
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