Canonical Allele Identifier: CA587147097
Gene: RIGI HGNC NCBI

Linked Data

gnomAD v2: 9-32455680-T-A
gnomAD v3: 9-32455682-T-A
gnomAD v4: 9-32455682-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32455682T>A , CM000671.2:g.32455682T>A GRCh38
NC_000009.11:g.32455680T>A , CM000671.1:g.32455680T>A GRCh37
NC_000009.10:g.32445680T>A NCBI36
NG_046918.1:g.75643A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379868.6:c.*1440A>T ENSP00000369197.2:n.*1440A>T
ENST00000379883.3:c.*1440A>T MANE Select ENSP00000369213.2:n.*1440A>T
ENST00000679665.1:c.*1440A>T ENSP00000504921.1:n.*1440A>T
ENST00000679771.1:c.*3641A>T ENSP00000505015.1:n.*3641A>T
ENST00000680198.1:c.*3986A>T ENSP00000505143.1:n.*3986A>T
ENST00000681750.1:c.*1440A>T ENSP00000506413.1:n.*1440A>T
NM_014314.3:c.*1440A>T NP_055129.2:n.*1440A>T
NM_014314.4:c.*1440A>T MANE Select NP_055129.2:n.*1440A>T
NM_001385907.1:c.*1440A>T NP_001372836.1:n.*1440A>T
NM_001385909.1:c.*1440A>T NP_001372838.1:n.*1440A>T
NM_001385910.1:c.*1440A>T NP_001372839.1:n.*1440A>T
NM_001385912.1:c.*1440A>T NP_001372841.1:n.*1440A>T
NM_001385913.1:c.*1440A>T NP_001372842.1:n.*1440A>T
NM_001385914.1:c.*1440A>T NP_001372843.1:n.*1440A>T