Canonical Allele Identifier: CA10630742

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364193
• ClinVar RCV Id: RCV000314913 ; RCV000369563 ; RCV000407273
• dbSNP Id: rs77001090
• gnomAD v2: 9-101916380-A-G
• gnomAD v3: 9-99154098-A-G
• gnomAD v4: 9-99154098-A-G
• MyVariant Identifiers: chr9:g.101916380A>G (hg19) ; chr9:g.101916380_101916381delinsGT (hg19) ; chr9:g.99154098A>G (hg38) ; chr9:g.99154098_99154099delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99154098A>G , CM000671.2:g.99154098A>G	GRCh38
NC_000009.11:g.101916380A>G , CM000671.1:g.101916380A>G	GRCh37
NC_000009.10:g.100956201A>G	NCBI36
NG_007461.1:g.53969A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*4793A>G	ENSP00000449934.2:n.*4793A>G
ENST00000552573.7:c.*4793A>G	ENSP00000447182.3:n.*4793A>G
ENST00000374994.9:c.*4793A>G MANE Select	ENSP00000364133.4:n.*4793A>G
ENST00000374994.8:c.*4793A>G	ENSP00000364133.4:n.*4793A>G
NM_001130916.1:c.*4793A>G	NP_001124388.1:n.*4793A>G
NM_001130916.2:c.*4793A>G	NP_001124388.1:n.*4793A>G
NM_001306210.1:c.*4793A>G	NP_001293139.1:n.*4793A>G
NM_004612.2:c.*4793A>G	NP_004603.1:n.*4793A>G
NM_004612.3:c.*4793A>G	NP_004603.1:n.*4793A>G
NM_004612.4:c.*4793A>G MANE Select	NP_004603.1:n.*4793A>G
NM_001130916.3:c.*4793A>G	NP_001124388.1:n.*4793A>G
NM_001306210.2:c.*4793A>G	NP_001293139.1:n.*4793A>G