Canonical Allele Identifier: CA10630702
Gene: TGFBR1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.99150189A>G
GRCh37 chr9:g.101912471A>G
gnomAD v2:
9:101912471 A / G
gnomAD v3:
9:99150189 A / G
gnomAD v4:
chr9-99150189-A-G
Joint Max Group AF 0.50147059 (EAS)
Genomes Max Group AF 0.45353952 (EAS)
Exomes Max Group AF 0.53092261 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99150189A>G , CM000671.2:g.99150189A>G GRCh38
NC_000009.11:g.101912471A>G , CM000671.1:g.101912471A>G GRCh37
NC_000009.10:g.100952292A>G NCBI36
NG_007461.1:g.50060A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*884A>G ENSP00000449934.2:n.*884A>G
ENST00000552573.7:c.*884A>G ENSP00000447182.3:n.*884A>G
ENST00000698941.1:c.*884A>G ENSP00000514048.1:n.*884A>G
ENST00000698943.1:n.1963A>G
ENST00000374994.9:c.*884A>G MANE Select ENSP00000364133.4:n.*884A>G
ENST00000374990.6:c.*884A>G ENSP00000364129.2:n.*884A>G
ENST00000374994.8:c.*884A>G ENSP00000364133.4:n.*884A>G
ENST00000552516.5:c.*884A>G ENSP00000447297.1:n.*884A>G
NM_001130916.1:c.*884A>G NP_001124388.1:n.*884A>G
NM_001130916.2:c.*884A>G NP_001124388.1:n.*884A>G
NM_001306210.1:c.*884A>G NP_001293139.1:n.*884A>G
NM_004612.2:c.*884A>G NP_004603.1:n.*884A>G
NM_004612.3:c.*884A>G NP_004603.1:n.*884A>G
XM_011518948.1:c.*884A>G XP_011517250.1:n.*884A>G
XM_011518949.1:c.*884A>G XP_011517251.1:n.*884A>G
XM_011518950.1:c.*884A>G XP_011517252.1:n.*884A>G
XM_011518948.2:c.*884A>G XP_011517250.1:n.*884A>G
XM_011518949.2:c.*884A>G XP_011517251.1:n.*884A>G
XM_011518950.2:c.*884A>G XP_011517252.1:n.*884A>G
XM_017015063.1:c.*884A>G XP_016870552.1:n.*884A>G
XM_024447658.1:c.*884A>G XP_024303426.1:n.*884A>G
NM_004612.4:c.*884A>G MANE Select NP_004603.1:n.*884A>G
NM_001130916.3:c.*884A>G NP_001124388.1:n.*884A>G
NM_001306210.2:c.*884A>G NP_001293139.1:n.*884A>G
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