Canonical Allele Identifier: CA10634343

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 364176
• ClinVar RCV Id: RCV000281999 ; RCV000334660 ; RCV000372897
• dbSNP Id: rs186157987
• gnomAD v2: 9-101915417-T-C
• gnomAD v3: 9-99153135-T-C
• gnomAD v4: 9-99153135-T-C
• MyVariant Identifiers: chr9:g.101915417T>C (hg19) ; chr9:g.99153135T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99153135T>C , CM000671.2:g.99153135T>C	GRCh38
NC_000009.11:g.101915417T>C , CM000671.1:g.101915417T>C	GRCh37
NC_000009.10:g.100955238T>C	NCBI36
NG_007461.1:g.53006T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*3830T>C	ENSP00000449934.2:n.*3830T>C
ENST00000552573.7:c.*3830T>C	ENSP00000447182.3:n.*3830T>C
ENST00000374994.9:c.*3830T>C MANE Select	ENSP00000364133.4:n.*3830T>C
ENST00000374990.6:c.*3830T>C	ENSP00000364129.2:n.*3830T>C
ENST00000374994.8:c.*3830T>C	ENSP00000364133.4:n.*3830T>C
ENST00000552516.5:c.*3830T>C	ENSP00000447297.1:n.*3830T>C
NM_001130916.1:c.*3830T>C	NP_001124388.1:n.*3830T>C
NM_001130916.2:c.*3830T>C	NP_001124388.1:n.*3830T>C
NM_001306210.1:c.*3830T>C	NP_001293139.1:n.*3830T>C
NM_004612.2:c.*3830T>C	NP_004603.1:n.*3830T>C
NM_004612.3:c.*3830T>C	NP_004603.1:n.*3830T>C
XM_011518948.1:c.*3830T>C	XP_011517250.1:n.*3830T>C
XM_011518949.1:c.*3830T>C	XP_011517251.1:n.*3830T>C
XM_011518950.1:c.*3830T>C	XP_011517252.1:n.*3830T>C
NM_004612.4:c.*3830T>C MANE Select	NP_004603.1:n.*3830T>C
NM_001130916.3:c.*3830T>C	NP_001124388.1:n.*3830T>C
NM_001306210.2:c.*3830T>C	NP_001293139.1:n.*3830T>C