Canonical Allele Identifier: CA196894026
Gene: TGFBR1 HGNC NCBI

Linked Data

dbSNP Id: rs553194978
gnomAD v3: 9-99146418-A-G
gnomAD v4: 9-99146418-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99146418A>G , CM000671.2:g.99146418A>G GRCh38
NC_000009.11:g.101908700A>G , CM000671.1:g.101908700A>G GRCh37
NC_000009.10:g.100948521A>G NCBI36
NG_007461.1:g.46289A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.924-67A>G ENSP00000449934.2:n.924-67A>G
ENST00000552573.7:c.936-67A>G ENSP00000447182.3:n.936-67A>G
ENST00000548365.6:c.*53-67A>G ENSP00000448518.2:n.*53-67A>G
ENST00000549021.6:c.693-67A>G ENSP00000449028.2:n.693-67A>G
ENST00000698941.1:c.936-67A>G ENSP00000514048.1:n.936-67A>G
ENST00000698942.1:c.*927-67A>G ENSP00000514049.1:n.*927-67A>G
ENST00000374994.9:c.1131-67A>G MANE Select ENSP00000364133.4:n.1131-67A>G
ENST00000374990.6:c.900-67A>G ENSP00000364129.2:n.900-67A>G
ENST00000374994.8:c.1131-67A>G ENSP00000364133.4:n.1131-67A>G
ENST00000549766.5:c.1143-1236A>G ENSP00000446685.1:n.1143-1236A>G
ENST00000550253.1:c.924-67A>G ENSP00000450052.1:n.924-67A>G
ENST00000552516.5:c.1143-67A>G ENSP00000447297.1:n.1143-67A>G
NM_001130916.1:c.900-67A>G NP_001124388.1:n.900-67A>G
NM_001130916.2:c.900-67A>G NP_001124388.1:n.900-67A>G
NM_001306210.1:c.1143-67A>G NP_001293139.1:n.1143-67A>G
NM_004612.2:c.1131-67A>G NP_004603.1:n.1131-67A>G
NM_004612.3:c.1131-67A>G NP_004603.1:n.1131-67A>G
XM_011518948.1:c.936-67A>G XP_011517250.1:n.936-67A>G
XM_011518949.1:c.924-67A>G XP_011517251.1:n.924-67A>G
XM_011518950.1:c.693-67A>G XP_011517252.1:n.693-67A>G
XM_011518948.2:c.936-67A>G XP_011517250.1:n.936-67A>G
XM_011518949.2:c.924-67A>G XP_011517251.1:n.924-67A>G
XM_011518950.2:c.693-67A>G XP_011517252.1:n.693-67A>G
XM_017015063.1:c.936-67A>G XP_016870552.1:n.936-67A>G
XM_024447658.1:c.924-67A>G XP_024303426.1:n.924-67A>G
NM_004612.4:c.1131-67A>G MANE Select NP_004603.1:n.1131-67A>G
NM_001130916.3:c.900-67A>G NP_001124388.1:n.900-67A>G
NM_001306210.2:c.1143-67A>G NP_001293139.1:n.1143-67A>G