Canonical Allele Identifier: CA1004404003
Gene: TGFBR3 HGNC NCBI

Linked Data

dbSNP Id: rs1678409585
gnomAD v3: 1-91866882-T-G
gnomAD v4: 1-91866882-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91866882T>G , CM000663.2:g.91866882T>G GRCh38
NC_000001.10:g.92332439T>G , CM000663.1:g.92332439T>G GRCh37
NC_000001.9:g.92105027T>G NCBI36
NG_027757.1:g.44121A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.-113-5238A>C MANE Select ENSP00000212355.4:n.-113-5238A>C
ENST00000212355.8:c.-113-5238A>C ENSP00000212355.4:n.-113-5238A>C
ENST00000370399.6:c.-113-5238A>C ENSP00000359426.2:n.-113-5238A>C
ENST00000417833.2:c.-200-40A>C ENSP00000395975.2:n.-200-40A>C
ENST00000465892.6:c.-113-5238A>C ENSP00000432638.1:n.-113-5238A>C
ENST00000532540.5:c.-113-5238A>C ENSP00000434994.1:n.-113-5238A>C
ENST00000533370.1:n.123-2603A>C
NM_001195683.1:c.-113-5238A>C NP_001182612.1:n.-113-5238A>C
NM_001195684.1:c.-113-5238A>C NP_001182613.1:n.-113-5238A>C
NM_003243.4:c.-113-5238A>C NP_003234.2:n.-113-5238A>C
NR_036634.1:n.403-5238A>C
XM_006710867.1:c.-113-5238A>C XP_006710930.1:n.-113-5238A>C
XM_006710867.2:c.-113-5238A>C XP_006710930.1:n.-113-5238A>C
NM_003243.5:c.-113-5238A>C MANE Select NP_003234.2:n.-113-5238A>C
NM_001195683.2:c.-113-5238A>C NP_001182612.1:n.-113-5238A>C
NR_036634.2:n.275-5238A>C