Canonical Allele Identifier: CA15588458
Gene: RIGI HGNC NCBI

Linked Data

dbSNP Id: rs1133071
gnomAD v2: 9-32455674-A-G
gnomAD v3: 9-32455676-A-G
gnomAD v4: 9-32455676-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32455676A>G , CM000671.2:g.32455676A>G GRCh38
NC_000009.11:g.32455674A>G , CM000671.1:g.32455674A>G GRCh37
NC_000009.10:g.32445674A>G NCBI36
NG_046918.1:g.75649T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379868.6:c.*1446T>C ENSP00000369197.2:n.*1446T>C
ENST00000379883.3:c.*1446T>C MANE Select ENSP00000369213.2:n.*1446T>C
ENST00000679665.1:c.*1446T>C ENSP00000504921.1:n.*1446T>C
ENST00000679771.1:c.*3647T>C ENSP00000505015.1:n.*3647T>C
ENST00000680198.1:c.*3992T>C ENSP00000505143.1:n.*3992T>C
ENST00000681750.1:c.*1446T>C ENSP00000506413.1:n.*1446T>C
NM_014314.3:c.*1446T>C NP_055129.2:n.*1446T>C
NM_014314.4:c.*1446T>C MANE Select NP_055129.2:n.*1446T>C
NM_001385907.1:c.*1446T>C NP_001372836.1:n.*1446T>C
NM_001385909.1:c.*1446T>C NP_001372838.1:n.*1446T>C
NM_001385910.1:c.*1446T>C NP_001372839.1:n.*1446T>C
NM_001385912.1:c.*1446T>C NP_001372841.1:n.*1446T>C
NM_001385913.1:c.*1446T>C NP_001372842.1:n.*1446T>C
NM_001385914.1:c.*1446T>C NP_001372843.1:n.*1446T>C