Canonical Allele Identifier: CA1122964270
Gene: RIGI HGNC NCBI

Linked Data

dbSNP Id: rs1822889916
gnomAD v3: 9-32455597-G-A
gnomAD v4: 9-32455597-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32455597G>A , CM000671.2:g.32455597G>A GRCh38
NC_000009.11:g.32455595G>A , CM000671.1:g.32455595G>A GRCh37
NC_000009.10:g.32445595G>A NCBI36
NG_046918.1:g.75728C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379868.6:c.*1525C>T ENSP00000369197.2:n.*1525C>T
ENST00000379883.3:c.*1525C>T MANE Select ENSP00000369213.2:n.*1525C>T
ENST00000679665.1:c.*1525C>T ENSP00000504921.1:n.*1525C>T
ENST00000679771.1:c.*3726C>T ENSP00000505015.1:n.*3726C>T
ENST00000680198.1:c.*4071C>T ENSP00000505143.1:n.*4071C>T
ENST00000681750.1:c.*1525C>T ENSP00000506413.1:n.*1525C>T
NM_014314.3:c.*1525C>T NP_055129.2:n.*1525C>T
NM_014314.4:c.*1525C>T MANE Select NP_055129.2:n.*1525C>T
NM_001385907.1:c.*1525C>T NP_001372836.1:n.*1525C>T
NM_001385909.1:c.*1525C>T NP_001372838.1:n.*1525C>T
NM_001385910.1:c.*1525C>T NP_001372839.1:n.*1525C>T
NM_001385912.1:c.*1525C>T NP_001372841.1:n.*1525C>T
NM_001385913.1:c.*1525C>T NP_001372842.1:n.*1525C>T
NM_001385914.1:c.*1525C>T NP_001372843.1:n.*1525C>T