Canonical Allele Identifier: CA341196
Gene: TGFB1 HGNC NCBI
ClinVar RCV:
RCV000013355
RCV001851823
RCV004018619
ClinVar Variation:
12529
dbSNP:
104894720
gnomAD v2:
19:41848134 C / T
gnomAD v4:
chr19-41342229-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr19:g.41342229C>T
GRCh37 chr19:g.41848134C>T
Revel Score:
ENST00000221930 (MANE Select) 0.407
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41342229C>T , CM000681.2:g.41342229C>T GRCh38
NC_000019.9:g.41848134C>T , CM000681.1:g.41848134C>T GRCh37
NC_000019.8:g.46539974C>T NCBI36
NG_013364.1:g.16698G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.653G>A MANE Select ENSP00000221930.4:p.Arg218His
ENST00000600196.2:c.653G>A ENSP00000504008.1:p.Arg218His
ENST00000677934.1:c.634+2518G>A ENSP00000504769.1:n.634+2518G>A
ENST00000221930.5:c.653G>A ENSP00000221930.4:p.Arg218His
ENST00000597453.1:n.184G>A
ENST00000600196.1:n.113G>A
NM_000660.5:c.653G>A NP_000651.3:p.Arg218His
XM_011527242.1:c.653G>A XP_011525544.1:p.Arg218His
NM_000660.6:c.653G>A NP_000651.3:p.Arg218His
XM_011527242.2:c.653G>A XP_011525544.1:p.Arg218His
NM_000660.7:c.653G>A MANE Select NP_000651.3:p.Arg218His
Search 100 bp 5'
Search 100 bp 3'