Canonical Allele Identifier: CA406006321
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41352971C>T
GRCh37 chr19:g.41858876C>T
Revel Score:
ENST00000221930 (MANE Select) 0.093
gnomAD v2:
19:41858876 C / T
gnomAD v3:
19:41352971 C / T
gnomAD v4:
chr19-41352971-C-T
Joint Max Group AF 0.00000454 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 7.4e-7 (NFE)
ClinVar RCV:
RCV003673788
ClinVar Variation:
2800888
dbSNP:
1800471
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352971C>T , CM000681.2:g.41352971C>T GRCh38
NC_000019.9:g.41858876C>T , CM000681.1:g.41858876C>T GRCh37
NC_000019.8:g.46550716C>T NCBI36
NG_013091.1:g.16203G>A
NG_013364.1:g.5956G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.74G>A (TGFB1) MANE Select ENSP00000221930.4:p.Arg25Gln
ENST00000600196.2:c.74G>A (TGFB1) ENSP00000504008.1:p.Arg25Gln
ENST00000677934.1:c.74G>A (TGFB1) ENSP00000504769.1:p.Arg25Gln
ENST00000221930.5:c.74G>A (TGFB1) ENSP00000221930.4:p.Arg25Gln
ENST00000539627.5:c.-30+1769C>T (TMEM91) ENSP00000441900.1:n.-30+1769C>T
ENST00000604424.1:n.350+1769C>T
NM_000660.5:c.74G>A (TGFB1) NP_000651.3:p.Arg25Gln
XM_011527242.1:c.74G>A (TGFB1) XP_011525544.1:p.Arg25Gln
NM_000660.6:c.74G>A (TGFB1) NP_000651.3:p.Arg25Gln
XM_011527242.2:c.74G>A (TGFB1) XP_011525544.1:p.Arg25Gln
NM_000660.7:c.74G>A (TGFB1) MANE Select NP_000651.3:p.Arg25Gln
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