Canonical Allele Identifier: CA10634696

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364190
• ClinVar RCV Id: RCV000283006 ; RCV000342405 ; RCV000377485 ; RCV002512098
• dbSNP Id: rs200806851
• gnomAD v2: 9-101916210-G-C
• gnomAD v3: 9-99153928-G-C
• gnomAD v4: 9-99153928-G-C
• MyVariant Identifiers: chr9:g.101916210G>C (hg19) ; chr9:g.99153928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99153928G>C , CM000671.2:g.99153928G>C	GRCh38
NC_000009.11:g.101916210G>C , CM000671.1:g.101916210G>C	GRCh37
NC_000009.10:g.100956031G>C	NCBI36
NG_007461.1:g.53799G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*4623G>C	ENSP00000449934.2:n.*4623G>C
ENST00000552573.7:c.*4623G>C	ENSP00000447182.3:n.*4623G>C
ENST00000374994.9:c.*4623G>C MANE Select	ENSP00000364133.4:n.*4623G>C
ENST00000374994.8:c.*4623G>C	ENSP00000364133.4:n.*4623G>C
NM_001130916.1:c.*4623G>C	NP_001124388.1:n.*4623G>C
NM_001130916.2:c.*4623G>C	NP_001124388.1:n.*4623G>C
NM_001306210.1:c.*4623G>C	NP_001293139.1:n.*4623G>C
NM_004612.2:c.*4623G>C	NP_004603.1:n.*4623G>C
NM_004612.3:c.*4623G>C	NP_004603.1:n.*4623G>C
NM_004612.4:c.*4623G>C MANE Select	NP_004603.1:n.*4623G>C
NM_001130916.3:c.*4623G>C	NP_001124388.1:n.*4623G>C
NM_001306210.2:c.*4623G>C	NP_001293139.1:n.*4623G>C