Canonical Allele Identifier: CA196852488

Gene: TGFBR1

Linked Data

• dbSNP Id: rs200426010
• gnomAD v3: 9-99153803-C-T
• gnomAD v4: 9-99153803-C-T
• MyVariant Identifiers: chr9:g.101916085C>T (hg19) ; chr9:g.99153803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99153803C>T , CM000671.2:g.99153803C>T	GRCh38
NC_000009.11:g.101916085C>T , CM000671.1:g.101916085C>T	GRCh37
NC_000009.10:g.100955906C>T	NCBI36
NG_007461.1:g.53674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*4498C>T	ENSP00000449934.2:n.*4498C>T
ENST00000552573.7:c.*4498C>T	ENSP00000447182.3:n.*4498C>T
ENST00000374994.9:c.*4498C>T MANE Select	ENSP00000364133.4:n.*4498C>T
ENST00000374994.8:c.*4498C>T	ENSP00000364133.4:n.*4498C>T
NM_001130916.1:c.*4498C>T	NP_001124388.1:n.*4498C>T
NM_001130916.2:c.*4498C>T	NP_001124388.1:n.*4498C>T
NM_001306210.1:c.*4498C>T	NP_001293139.1:n.*4498C>T
NM_004612.2:c.*4498C>T	NP_004603.1:n.*4498C>T
NM_004612.3:c.*4498C>T	NP_004603.1:n.*4498C>T
NM_004612.4:c.*4498C>T MANE Select	NP_004603.1:n.*4498C>T
NM_001130916.3:c.*4498C>T	NP_001124388.1:n.*4498C>T
NM_001306210.2:c.*4498C>T	NP_001293139.1:n.*4498C>T