Canonical Allele Identifier: CA2690967403

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99151108-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99151108A>C , CM000671.2:g.99151108A>C	GRCh38
NC_000009.11:g.101913390A>C , CM000671.1:g.101913390A>C	GRCh37
NC_000009.10:g.100953211A>C	NCBI36
NG_007461.1:g.50979A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547314.6:c.*1803A>C	ENSP00000449934.2:n.*1803A>C
ENST00000552573.7:c.*1803A>C	ENSP00000447182.3:n.*1803A>C
ENST00000698941.1:c.*1803A>C	ENSP00000514048.1:n.*1803A>C
ENST00000698943.1:n.2882A>C
ENST00000374994.9:c.*1803A>C MANE Select	ENSP00000364133.4:n.*1803A>C
ENST00000374990.6:c.*1803A>C	ENSP00000364129.2:n.*1803A>C
ENST00000374994.8:c.*1803A>C	ENSP00000364133.4:n.*1803A>C
ENST00000552516.5:c.*1803A>C	ENSP00000447297.1:n.*1803A>C
NM_001130916.1:c.*1803A>C	NP_001124388.1:n.*1803A>C
NM_001130916.2:c.*1803A>C	NP_001124388.1:n.*1803A>C
NM_001306210.1:c.*1803A>C	NP_001293139.1:n.*1803A>C
NM_004612.2:c.*1803A>C	NP_004603.1:n.*1803A>C
NM_004612.3:c.*1803A>C	NP_004603.1:n.*1803A>C
XM_011518948.1:c.*1803A>C	XP_011517250.1:n.*1803A>C
XM_011518949.1:c.*1803A>C	XP_011517251.1:n.*1803A>C
XM_011518950.1:c.*1803A>C	XP_011517252.1:n.*1803A>C
NM_004612.4:c.*1803A>C MANE Select	NP_004603.1:n.*1803A>C
NM_001130916.3:c.*1803A>C	NP_001124388.1:n.*1803A>C
NM_001306210.2:c.*1803A>C	NP_001293139.1:n.*1803A>C