Canonical Allele Identifier: CA9460186
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41353016G>C
GRCh37 chr19:g.41858921G>C
Revel Score:
ENST00000221930 (MANE Select) 0.030
gnomAD v2:
19:41858921 G / C
gnomAD v3:
19:41353016 G / C
gnomAD v4:
chr19-41353016-G-C
Joint Max Group AF 0.00146006 (SAS)
Genomes Max Group AF 0.00143463 (SAS)
Exomes Max Group AF 0.0014075 (SAS)
ClinVar RCV:
RCV001977572
ClinVar Variation:
1473460
dbSNP:
1800470
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353016G>C , CM000681.2:g.41353016G>C GRCh38
NC_000019.9:g.41858921G>C , CM000681.1:g.41858921G>C GRCh37
NC_000019.8:g.46550761G>C NCBI36
NG_013091.1:g.16158C>G
NG_013364.1:g.5911C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.29C>G (TGFB1) MANE Select ENSP00000221930.4:p.Pro10Arg
ENST00000600196.2:c.29C>G (TGFB1) ENSP00000504008.1:p.Pro10Arg
ENST00000677934.1:c.29C>G (TGFB1) ENSP00000504769.1:p.Pro10Arg
ENST00000221930.5:c.29C>G (TGFB1) ENSP00000221930.4:p.Pro10Arg
ENST00000539627.5:c.-30+1814G>C (TMEM91) ENSP00000441900.1:n.-30+1814G>C
ENST00000604424.1:n.350+1814G>C
NM_000660.5:c.29C>G (TGFB1) NP_000651.3:p.Pro10Arg
XM_011527242.1:c.29C>G (TGFB1) XP_011525544.1:p.Pro10Arg
NM_000660.6:c.29C>G (TGFB1) NP_000651.3:p.Pro10Arg
XM_011527242.2:c.29C>G (TGFB1) XP_011525544.1:p.Pro10Arg
NM_000660.7:c.29C>G (TGFB1) MANE Select NP_000651.3:p.Pro10Arg
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