Canonical Allele Identifier: CA869146598
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1318478155
gnomAD v4: 9-99153947-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99153947C>T , CM000671.2:g.99153947C>T GRCh38
NC_000009.11:g.101916229C>T , CM000671.1:g.101916229C>T GRCh37
NC_000009.10:g.100956050C>T NCBI36
NG_007461.1:g.53818C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*4642C>T ENSP00000449934.2:n.*4642C>T
ENST00000552573.7:c.*4642C>T ENSP00000447182.3:n.*4642C>T
ENST00000374994.9:c.*4642C>T MANE Select ENSP00000364133.4:n.*4642C>T
ENST00000374994.8:c.*4642C>T ENSP00000364133.4:n.*4642C>T
NM_001130916.1:c.*4642C>T NP_001124388.1:n.*4642C>T
NM_001130916.2:c.*4642C>T NP_001124388.1:n.*4642C>T
NM_001306210.1:c.*4642C>T NP_001293139.1:n.*4642C>T
NM_004612.2:c.*4642C>T NP_004603.1:n.*4642C>T
NM_004612.3:c.*4642C>T NP_004603.1:n.*4642C>T
NM_004612.4:c.*4642C>T MANE Select NP_004603.1:n.*4642C>T
NM_001130916.3:c.*4642C>T NP_001124388.1:n.*4642C>T
NM_001306210.2:c.*4642C>T NP_001293139.1:n.*4642C>T