Canonical Allele Identifier: CA2690968212
Gene: TGFBR1 HGNC NCBI

Linked Data

gnomAD v4: 9-99153945-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99153945G>T , CM000671.2:g.99153945G>T GRCh38
NC_000009.11:g.101916227G>T , CM000671.1:g.101916227G>T GRCh37
NC_000009.10:g.100956048G>T NCBI36
NG_007461.1:g.53816G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.*4640G>T ENSP00000449934.2:n.*4640G>T
ENST00000552573.7:c.*4640G>T ENSP00000447182.3:n.*4640G>T
ENST00000374994.9:c.*4640G>T MANE Select ENSP00000364133.4:n.*4640G>T
ENST00000374994.8:c.*4640G>T ENSP00000364133.4:n.*4640G>T
NM_001130916.1:c.*4640G>T NP_001124388.1:n.*4640G>T
NM_001130916.2:c.*4640G>T NP_001124388.1:n.*4640G>T
NM_001306210.1:c.*4640G>T NP_001293139.1:n.*4640G>T
NM_004612.2:c.*4640G>T NP_004603.1:n.*4640G>T
NM_004612.3:c.*4640G>T NP_004603.1:n.*4640G>T
NM_004612.4:c.*4640G>T MANE Select NP_004603.1:n.*4640G>T
NM_001130916.3:c.*4640G>T NP_001124388.1:n.*4640G>T
NM_001306210.2:c.*4640G>T NP_001293139.1:n.*4640G>T