Canonical Allele Identifier: CA869146601
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs199856397
gnomAD v4: 9-99153956-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99153956G>A , CM000671.2:g.99153956G>A GRCh38
NC_000009.11:g.101916238G>A , CM000671.1:g.101916238G>A GRCh37
NC_000009.10:g.100956059G>A NCBI36
NG_007461.1:g.53827G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*4651G>A ENSP00000449934.2:n.*4651G>A
ENST00000552573.7:c.*4651G>A ENSP00000447182.3:n.*4651G>A
ENST00000374994.9:c.*4651G>A MANE Select ENSP00000364133.4:n.*4651G>A
ENST00000374994.8:c.*4651G>A ENSP00000364133.4:n.*4651G>A
NM_001130916.1:c.*4651G>A NP_001124388.1:n.*4651G>A
NM_001130916.2:c.*4651G>A NP_001124388.1:n.*4651G>A
NM_001306210.1:c.*4651G>A NP_001293139.1:n.*4651G>A
NM_004612.2:c.*4651G>A NP_004603.1:n.*4651G>A
NM_004612.3:c.*4651G>A NP_004603.1:n.*4651G>A
NM_004612.4:c.*4651G>A MANE Select NP_004603.1:n.*4651G>A
NM_001130916.3:c.*4651G>A NP_001124388.1:n.*4651G>A
NM_001306210.2:c.*4651G>A NP_001293139.1:n.*4651G>A