Canonical Allele Identifier: CA863273414
Gene: RIGI HGNC NCBI

Linked Data

dbSNP Id: rs1243818534
gnomAD v3: 9-32455626-G-C
gnomAD v4: 9-32455626-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32455626G>C , CM000671.2:g.32455626G>C GRCh38
NC_000009.11:g.32455624G>C , CM000671.1:g.32455624G>C GRCh37
NC_000009.10:g.32445624G>C NCBI36
NG_046918.1:g.75699C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379868.6:c.*1496C>G ENSP00000369197.2:n.*1496C>G
ENST00000379883.3:c.*1496C>G MANE Select ENSP00000369213.2:n.*1496C>G
ENST00000679665.1:c.*1496C>G ENSP00000504921.1:n.*1496C>G
ENST00000679771.1:c.*3697C>G ENSP00000505015.1:n.*3697C>G
ENST00000680198.1:c.*4042C>G ENSP00000505143.1:n.*4042C>G
ENST00000681750.1:c.*1496C>G ENSP00000506413.1:n.*1496C>G
NM_014314.3:c.*1496C>G NP_055129.2:n.*1496C>G
NM_014314.4:c.*1496C>G MANE Select NP_055129.2:n.*1496C>G
NM_001385907.1:c.*1496C>G NP_001372836.1:n.*1496C>G
NM_001385909.1:c.*1496C>G NP_001372838.1:n.*1496C>G
NM_001385910.1:c.*1496C>G NP_001372839.1:n.*1496C>G
NM_001385912.1:c.*1496C>G NP_001372841.1:n.*1496C>G
NM_001385913.1:c.*1496C>G NP_001372842.1:n.*1496C>G
NM_001385914.1:c.*1496C>G NP_001372843.1:n.*1496C>G