Canonical Allele Identifier: CA2690968217

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99153947-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99153947C>A , CM000671.2:g.99153947C>A	GRCh38
NC_000009.11:g.101916229C>A , CM000671.1:g.101916229C>A	GRCh37
NC_000009.10:g.100956050C>A	NCBI36
NG_007461.1:g.53818C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*4642C>A	ENSP00000449934.2:n.*4642C>A
ENST00000552573.7:c.*4642C>A	ENSP00000447182.3:n.*4642C>A
ENST00000374994.9:c.*4642C>A MANE Select	ENSP00000364133.4:n.*4642C>A
ENST00000374994.8:c.*4642C>A	ENSP00000364133.4:n.*4642C>A
NM_001130916.1:c.*4642C>A	NP_001124388.1:n.*4642C>A
NM_001130916.2:c.*4642C>A	NP_001124388.1:n.*4642C>A
NM_001306210.1:c.*4642C>A	NP_001293139.1:n.*4642C>A
NM_004612.2:c.*4642C>A	NP_004603.1:n.*4642C>A
NM_004612.3:c.*4642C>A	NP_004603.1:n.*4642C>A
NM_004612.4:c.*4642C>A MANE Select	NP_004603.1:n.*4642C>A
NM_001130916.3:c.*4642C>A	NP_001124388.1:n.*4642C>A
NM_001306210.2:c.*4642C>A	NP_001293139.1:n.*4642C>A