Canonical Allele Identifier: CA10680101
Gene: TGFBR3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.91866932C>T
GRCh37 chr1:g.92332489C>T
gnomAD v2:
1:92332489 C / T
gnomAD v3:
1:91866932 C / T
gnomAD v4:
chr1-91866932-C-T
Joint Max Group AF 0.78602866 (EAS)
Genomes Max Group AF 0.78602866 (EAS)
Exomes Max Group AF 0.51368477 (NFE)
dbSNP:
2489188
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91866932C>T , CM000663.2:g.91866932C>T GRCh38
NC_000001.10:g.92332489C>T , CM000663.1:g.92332489C>T GRCh37
NC_000001.9:g.92105077C>T NCBI36
NG_027757.1:g.44071G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.-113-5288G>A MANE Select ENSP00000212355.4:n.-113-5288G>A
ENST00000212355.8:c.-113-5288G>A ENSP00000212355.4:n.-113-5288G>A
ENST00000370399.6:c.-113-5288G>A ENSP00000359426.2:n.-113-5288G>A
ENST00000417833.2:c.-200-90G>A ENSP00000395975.2:n.-200-90G>A
ENST00000465892.6:c.-113-5288G>A ENSP00000432638.1:n.-113-5288G>A
ENST00000532540.5:c.-113-5288G>A ENSP00000434994.1:n.-113-5288G>A
ENST00000533370.1:n.123-2653G>A
NM_001195683.1:c.-113-5288G>A NP_001182612.1:n.-113-5288G>A
NM_001195684.1:c.-113-5288G>A NP_001182613.1:n.-113-5288G>A
NM_003243.4:c.-113-5288G>A NP_003234.2:n.-113-5288G>A
NR_036634.1:n.403-5288G>A
XM_006710867.1:c.-113-5288G>A XP_006710930.1:n.-113-5288G>A
XM_006710867.2:c.-113-5288G>A XP_006710930.1:n.-113-5288G>A
NM_003243.5:c.-113-5288G>A MANE Select NP_003234.2:n.-113-5288G>A
NM_001195683.2:c.-113-5288G>A NP_001182612.1:n.-113-5288G>A
NR_036634.2:n.275-5288G>A
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