Canonical Allele Identifier: CA196888834
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs942871373
gnomAD v3: 9-99137825-G-T
gnomAD v4: 9-99137825-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99137825G>T , CM000671.2:g.99137825G>T GRCh38
NC_000009.11:g.101900107G>T , CM000671.1:g.101900107G>T GRCh37
NC_000009.10:g.100939928G>T NCBI36
NG_007461.1:g.37696G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.368-34G>T ENSP00000449934.2:n.368-34G>T
ENST00000552573.7:c.380-34G>T ENSP00000447182.3:n.380-34G>T
ENST00000548365.6:c.380-4711G>T ENSP00000448518.2:n.380-4711G>T
ENST00000549021.6:c.137-34G>T ENSP00000449028.2:n.137-34G>T
ENST00000698941.1:c.380-34G>T ENSP00000514048.1:n.380-34G>T
ENST00000698942.1:c.*371-34G>T ENSP00000514049.1:n.*371-34G>T
ENST00000374994.9:c.575-34G>T MANE Select ENSP00000364133.4:n.575-34G>T
ENST00000374990.6:c.344-34G>T ENSP00000364129.2:n.344-34G>T
ENST00000374994.8:c.575-34G>T ENSP00000364133.4:n.575-34G>T
ENST00000549021.5:c.137-34G>T ENSP00000449028.1:n.137-34G>T
ENST00000549766.5:c.587-34G>T ENSP00000446685.1:n.587-34G>T
ENST00000550253.1:c.368-34G>T ENSP00000450052.1:n.368-34G>T
ENST00000552516.5:c.587-34G>T ENSP00000447297.1:n.587-34G>T
NM_001130916.1:c.344-34G>T NP_001124388.1:n.344-34G>T
NM_001130916.2:c.344-34G>T NP_001124388.1:n.344-34G>T
NM_001306210.1:c.587-34G>T NP_001293139.1:n.587-34G>T
NM_004612.2:c.575-34G>T NP_004603.1:n.575-34G>T
NM_004612.3:c.575-34G>T NP_004603.1:n.575-34G>T
XM_011518948.1:c.380-34G>T XP_011517250.1:n.380-34G>T
XM_011518949.1:c.368-34G>T XP_011517251.1:n.368-34G>T
XM_011518950.1:c.137-34G>T XP_011517252.1:n.137-34G>T
XM_011518948.2:c.380-34G>T XP_011517250.1:n.380-34G>T
XM_011518949.2:c.368-34G>T XP_011517251.1:n.368-34G>T
XM_011518950.2:c.137-34G>T XP_011517252.1:n.137-34G>T
XM_017015063.1:c.380-34G>T XP_016870552.1:n.380-34G>T
XM_024447658.1:c.368-34G>T XP_024303426.1:n.368-34G>T
NM_004612.4:c.575-34G>T MANE Select NP_004603.1:n.575-34G>T
NM_001130916.3:c.344-34G>T NP_001124388.1:n.344-34G>T
NM_001306210.2:c.587-34G>T NP_001293139.1:n.587-34G>T