Canonical Allele Identifier: CA10634347

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364187
• ClinVar RCV Id: RCV001785603
• dbSNP Id: rs79641064
• gnomAD v2: 9-101916086-G-A
• gnomAD v3: 9-99153804-G-A
• gnomAD v4: 9-99153804-G-A
• MyVariant Identifiers: chr9:g.101916086G>A (hg19) ; chr9:g.99153804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99153804G>A , CM000671.2:g.99153804G>A	GRCh38
NC_000009.11:g.101916086G>A , CM000671.1:g.101916086G>A	GRCh37
NC_000009.10:g.100955907G>A	NCBI36
NG_007461.1:g.53675G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*4499G>A	ENSP00000449934.2:n.*4499G>A
ENST00000552573.7:c.*4499G>A	ENSP00000447182.3:n.*4499G>A
ENST00000374994.9:c.*4499G>A MANE Select	ENSP00000364133.4:n.*4499G>A
ENST00000374994.8:c.*4499G>A	ENSP00000364133.4:n.*4499G>A
NM_001130916.1:c.*4499G>A	NP_001124388.1:n.*4499G>A
NM_001130916.2:c.*4499G>A	NP_001124388.1:n.*4499G>A
NM_001306210.1:c.*4499G>A	NP_001293139.1:n.*4499G>A
NM_004612.2:c.*4499G>A	NP_004603.1:n.*4499G>A
NM_004612.3:c.*4499G>A	NP_004603.1:n.*4499G>A
NM_004612.4:c.*4499G>A MANE Select	NP_004603.1:n.*4499G>A
NM_001130916.3:c.*4499G>A	NP_001124388.1:n.*4499G>A
NM_001306210.2:c.*4499G>A	NP_001293139.1:n.*4499G>A