Canonical Allele Identifier: CA044758

Gene: TGFBR1

Linked Data

• ClinVar Variation Id: 722858
• ClinVar RCV Id: RCV000896547 ; RCV004003149
• dbSNP Id: rs749295577
• ExAC: 9:101891131 T / C
• gnomAD v2: 9-101891131-T-C
• gnomAD v3: 9-99128849-T-C
• gnomAD v4: 9-99128849-T-C
• MyVariant Identifiers: chr9:g.101891131T>C (hg19) ; chr9:g.99128849T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99128849T>C , CM000671.2:g.99128849T>C	GRCh38
NC_000009.11:g.101891131T>C , CM000671.1:g.101891131T>C	GRCh37
NC_000009.10:g.100930952T>C	NCBI36
NG_007461.1:g.28720T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.-110-6T>C	ENSP00000449934.2:n.-110-6T>C
ENST00000552573.7:c.-110-6T>C	ENSP00000447182.3:n.-110-6T>C
ENST00000548365.6:c.-110-6T>C	ENSP00000448518.2:n.-110-6T>C
ENST00000549021.6:c.-110-6T>C	ENSP00000449028.2:n.-110-6T>C
ENST00000698941.1:c.-110-6T>C	ENSP00000514048.1:n.-110-6T>C
ENST00000374994.9:c.98-6T>C MANE Select	ENSP00000364133.4:n.98-6T>C
ENST00000374990.6:c.98-6T>C	ENSP00000364129.2:n.98-6T>C
ENST00000374994.8:c.98-6T>C	ENSP00000364133.4:n.98-6T>C
ENST00000546584.1:c.-116T>C	ENSP00000447707.2:n.-116T>C
ENST00000547314.5:c.-110-6T>C	ENSP00000449934.1:n.-110-6T>C
ENST00000548365.5:c.-110-6T>C	ENSP00000448518.1:n.-110-6T>C
ENST00000549021.5:c.-110-6T>C	ENSP00000449028.1:n.-110-6T>C
ENST00000549766.5:c.98-6T>C	ENSP00000446685.1:n.98-6T>C
ENST00000550253.1:c.-110-6T>C	ENSP00000450052.1:n.-110-6T>C
ENST00000552516.5:c.98-6T>C	ENSP00000447297.1:n.98-6T>C
ENST00000552573.6:c.-110-6T>C	ENSP00000447182.2:n.-110-6T>C
NM_001130916.1:c.98-6T>C	NP_001124388.1:n.98-6T>C
NM_001130916.2:c.98-6T>C	NP_001124388.1:n.98-6T>C
NM_001306210.1:c.98-6T>C	NP_001293139.1:n.98-6T>C
NM_004612.2:c.98-6T>C	NP_004603.1:n.98-6T>C
NM_004612.3:c.98-6T>C	NP_004603.1:n.98-6T>C
XM_011518948.1:c.-110-6T>C	XP_011517250.1:n.-110-6T>C
XM_011518949.1:c.-110-6T>C	XP_011517251.1:n.-110-6T>C
XM_011518950.1:c.-110-6T>C	XP_011517252.1:n.-110-6T>C
XM_011518948.2:c.-110-6T>C	XP_011517250.1:n.-110-6T>C
XM_011518949.2:c.-110-6T>C	XP_011517251.1:n.-110-6T>C
XM_011518950.2:c.-110-6T>C	XP_011517252.1:n.-110-6T>C
XM_017015063.1:c.-110-6T>C	XP_016870552.1:n.-110-6T>C
XM_024447658.1:c.-110-6T>C	XP_024303426.1:n.-110-6T>C
NM_004612.4:c.98-6T>C MANE Select	NP_004603.1:n.98-6T>C
NM_001130916.3:c.98-6T>C	NP_001124388.1:n.98-6T>C
NM_001306210.2:c.98-6T>C	NP_001293139.1:n.98-6T>C