Canonical Allele Identifier: CA1122964248

Gene: RIGI

Linked Data

• dbSNP Id: rs1822885864
• gnomAD v3: 9-32455470-A-C
• gnomAD v4: 9-32455470-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32455470A>C , CM000671.2:g.32455470A>C	GRCh38
NC_000009.11:g.32455468A>C , CM000671.1:g.32455468A>C	GRCh37
NC_000009.10:g.32445468A>C	NCBI36
NG_046918.1:g.75855T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379868.6:c.*1652T>G	ENSP00000369197.2:n.*1652T>G
ENST00000379883.3:c.*1652T>G MANE Select	ENSP00000369213.2:n.*1652T>G
ENST00000679665.1:c.*1652T>G	ENSP00000504921.1:n.*1652T>G
ENST00000679771.1:c.*3853T>G	ENSP00000505015.1:n.*3853T>G
ENST00000680198.1:c.*4198T>G	ENSP00000505143.1:n.*4198T>G
ENST00000681750.1:c.*1652T>G	ENSP00000506413.1:n.*1652T>G
NM_014314.3:c.*1652T>G	NP_055129.2:n.*1652T>G
NM_014314.4:c.*1652T>G MANE Select	NP_055129.2:n.*1652T>G
NM_001385907.1:c.*1652T>G	NP_001372836.1:n.*1652T>G
NM_001385909.1:c.*1652T>G	NP_001372838.1:n.*1652T>G
NM_001385910.1:c.*1652T>G	NP_001372839.1:n.*1652T>G
NM_001385912.1:c.*1652T>G	NP_001372841.1:n.*1652T>G
NM_001385913.1:c.*1652T>G	NP_001372842.1:n.*1652T>G
NM_001385914.1:c.*1652T>G	NP_001372843.1:n.*1652T>G