Canonical Allele Identifier: CA1122964329
Gene: RIGI HGNC NCBI

Linked Data

dbSNP Id: rs994474783
gnomAD v3: 9-32455738-G-T
gnomAD v4: 9-32455738-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32455738G>T , CM000671.2:g.32455738G>T GRCh38
NC_000009.11:g.32455736G>T , CM000671.1:g.32455736G>T GRCh37
NC_000009.10:g.32445736G>T NCBI36
NG_046918.1:g.75587C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379868.6:c.*1384C>A ENSP00000369197.2:n.*1384C>A
ENST00000379883.3:c.*1384C>A MANE Select ENSP00000369213.2:n.*1384C>A
ENST00000679665.1:c.*1384C>A ENSP00000504921.1:n.*1384C>A
ENST00000679771.1:c.*3585C>A ENSP00000505015.1:n.*3585C>A
ENST00000680198.1:c.*3930C>A ENSP00000505143.1:n.*3930C>A
ENST00000681750.1:c.*1384C>A ENSP00000506413.1:n.*1384C>A
ENST00000379868.5:c.*1384C>A ENSP00000369197.1:n.*1384C>A
ENST00000379883.2:c.*1384C>A ENSP00000369213.2:n.*1384C>A
NM_014314.3:c.*1384C>A NP_055129.2:n.*1384C>A
NM_014314.4:c.*1384C>A MANE Select NP_055129.2:n.*1384C>A
NM_001385907.1:c.*1384C>A NP_001372836.1:n.*1384C>A
NM_001385909.1:c.*1384C>A NP_001372838.1:n.*1384C>A
NM_001385910.1:c.*1384C>A NP_001372839.1:n.*1384C>A
NM_001385912.1:c.*1384C>A NP_001372841.1:n.*1384C>A
NM_001385913.1:c.*1384C>A NP_001372842.1:n.*1384C>A
NM_001385914.1:c.*1384C>A NP_001372843.1:n.*1384C>A