Canonical Allele Identifier: CA1127256396

Gene: TGFBR1

Linked Data

• dbSNP Id: rs1828033430
• gnomAD v3: 9-99153676-G-C
• gnomAD v4: 9-99153676-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99153676G>C , CM000671.2:g.99153676G>C	GRCh38
NC_000009.11:g.101915958G>C , CM000671.1:g.101915958G>C	GRCh37
NC_000009.10:g.100955779G>C	NCBI36
NG_007461.1:g.53547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.*4371G>C	ENSP00000449934.2:n.*4371G>C
ENST00000552573.7:c.*4371G>C	ENSP00000447182.3:n.*4371G>C
ENST00000374994.9:c.*4371G>C MANE Select	ENSP00000364133.4:n.*4371G>C
ENST00000374994.8:c.*4371G>C	ENSP00000364133.4:n.*4371G>C
NM_001130916.1:c.*4371G>C	NP_001124388.1:n.*4371G>C
NM_001130916.2:c.*4371G>C	NP_001124388.1:n.*4371G>C
NM_001306210.1:c.*4371G>C	NP_001293139.1:n.*4371G>C
NM_004612.2:c.*4371G>C	NP_004603.1:n.*4371G>C
NM_004612.3:c.*4371G>C	NP_004603.1:n.*4371G>C
XM_011518948.1:c.*4371G>C	XP_011517250.1:n.*4371G>C
XM_011518949.1:c.*4371G>C	XP_011517251.1:n.*4371G>C
XM_011518950.1:c.*4371G>C	XP_011517252.1:n.*4371G>C
NM_004612.4:c.*4371G>C MANE Select	NP_004603.1:n.*4371G>C
NM_001130916.3:c.*4371G>C	NP_001124388.1:n.*4371G>C
NM_001306210.2:c.*4371G>C	NP_001293139.1:n.*4371G>C