Canonical Allele Identifier: CA26680849
Gene: TGFBR3 HGNC NCBI

Linked Data

dbSNP Id: rs978673422
gnomAD v2: 1-92170691-A-G
gnomAD v3: 1-91705134-A-G
gnomAD v4: 1-91705134-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91705134A>G , CM000663.2:g.91705134A>G GRCh38
NC_000001.10:g.92170691A>G , CM000663.1:g.92170691A>G GRCh37
NC_000001.9:g.91943279A>G NCBI36
NG_027757.1:g.205869T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.2287+3529T>C MANE Select ENSP00000212355.4:n.2287+3529T>C
ENST00000212355.8:c.2287+3529T>C ENSP00000212355.4:n.2287+3529T>C
ENST00000370399.6:c.2284+3529T>C ENSP00000359426.2:n.2284+3529T>C
ENST00000465892.6:c.2284+3529T>C ENSP00000432638.1:n.2284+3529T>C
ENST00000470600.1:n.242+3529T>C
ENST00000525962.5:c.2287+3529T>C ENSP00000436127.1:n.2287+3529T>C
ENST00000532540.5:c.*2234+3529T>C ENSP00000434994.1:n.*2234+3529T>C
ENST00000533089.5:c.*2005+3529T>C ENSP00000433477.1:n.*2005+3529T>C
NM_001195683.1:c.2284+3529T>C NP_001182612.1:n.2284+3529T>C
NM_001195684.1:c.2284+3529T>C NP_001182613.1:n.2284+3529T>C
NM_003243.4:c.2287+3529T>C NP_003234.2:n.2287+3529T>C
NR_036634.1:n.2899+3529T>C
XM_006710867.1:c.2287+3529T>C XP_006710930.1:n.2287+3529T>C
XM_006710868.1:c.2287+3529T>C XP_006710931.1:n.2287+3529T>C
XM_011542058.1:c.1621+3529T>C XP_011540360.1:n.1621+3529T>C
XM_006710867.2:c.2287+3529T>C XP_006710930.1:n.2287+3529T>C
NM_003243.5:c.2287+3529T>C MANE Select NP_003234.2:n.2287+3529T>C
NM_001195683.2:c.2284+3529T>C NP_001182612.1:n.2284+3529T>C
NR_036634.2:n.2771+3529T>C