Canonical Allele Identifier: CA16606608

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 379554
• ClinVar RCV Id: RCV000756776 ; RCV002313044
• dbSNP Id: rs1007933061
• gnomAD v3: 9-99105202-G-A
• gnomAD v4: 9-99105202-G-A
• MyVariant Identifiers: chr9:g.101867484G>A (hg19) ; chr9:g.99105202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99105202G>A , CM000671.2:g.99105202G>A	GRCh38
NC_000009.11:g.101867484G>A , CM000671.1:g.101867484G>A	GRCh37
NC_000009.10:g.100907305G>A	NCBI36
NG_007461.1:g.5073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-111+1096G>A	ENSP00000449934.2:n.-111+1096G>A
ENST00000552573.7:c.-111+1096G>A	ENSP00000447182.3:n.-111+1096G>A
ENST00000698941.1:c.-111+77G>A	ENSP00000514048.1:n.-111+77G>A
ENST00000374994.9:c.-4G>A MANE Select	ENSP00000364133.4:n.-4G>A
ENST00000374990.6:c.-4G>A	ENSP00000364129.2:n.-4G>A
ENST00000374994.8:c.-4G>A	ENSP00000364133.4:n.-4G>A
ENST00000547314.5:c.-111+1096G>A	ENSP00000449934.1:n.-111+1096G>A
ENST00000549766.5:c.-4G>A	ENSP00000446685.1:n.-4G>A
ENST00000552516.5:c.-4G>A	ENSP00000447297.1:n.-4G>A
ENST00000552573.6:c.-111+1096G>A	ENSP00000447182.2:n.-111+1096G>A
NM_001130916.1:c.-4G>A	NP_001124388.1:n.-4G>A
NM_001130916.2:c.-4G>A	NP_001124388.1:n.-4G>A
NM_001306210.1:c.-4G>A	NP_001293139.1:n.-4G>A
NM_004612.2:c.-4G>A	NP_004603.1:n.-4G>A
NM_004612.3:c.-4G>A	NP_004603.1:n.-4G>A
XM_011518949.1:c.-111+1096G>A	XP_011517251.1:n.-111+1096G>A
XM_011518949.2:c.-111+1096G>A	XP_011517251.1:n.-111+1096G>A
XM_017015063.1:c.-111+77G>A	XP_016870552.1:n.-111+77G>A
NM_004612.4:c.-4G>A MANE Select	NP_004603.1:n.-4G>A
NM_001130916.3:c.-4G>A	NP_001124388.1:n.-4G>A
NM_001306210.2:c.-4G>A	NP_001293139.1:n.-4G>A