Canonical Allele Identifier: CA13010411
Gene: RIGI HGNC NCBI

Linked Data

dbSNP Id: rs11795343
gnomAD v2: 9-32523737-T-C
gnomAD v3: 9-32523739-T-C
gnomAD v4: 9-32523739-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32523739T>C , CM000671.2:g.32523739T>C GRCh38
NC_000009.11:g.32523737T>C , CM000671.1:g.32523737T>C GRCh37
NC_000009.10:g.32513737T>C NCBI36
NG_046918.1:g.7586A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379868.6:c.106+2322A>G ENSP00000369197.2:n.106+2322A>G
ENST00000379883.3:c.106+2322A>G MANE Select ENSP00000369213.2:n.106+2322A>G
ENST00000679662.1:n.104+2322A>G
ENST00000679771.1:c.106+2322A>G ENSP00000505015.1:n.106+2322A>G
ENST00000679859.1:c.106+2322A>G ENSP00000505702.1:n.106+2322A>G
ENST00000680198.1:c.199-22803A>G ENSP00000505143.1:n.199-22803A>G
ENST00000680733.1:c.110+2318A>G ENSP00000504892.1:n.110+2318A>G
ENST00000680883.1:n.104+2322A>G
ENST00000681750.1:c.-44-22800A>G ENSP00000506413.1:n.-44-22800A>G
ENST00000379868.5:c.-356+2322A>G ENSP00000369197.1:n.-356+2322A>G
ENST00000379883.2:c.106+2322A>G ENSP00000369213.2:n.106+2322A>G
NM_014314.3:c.106+2322A>G NP_055129.2:n.106+2322A>G
NM_014314.4:c.106+2322A>G MANE Select NP_055129.2:n.106+2322A>G
NM_001385907.1:c.106+2322A>G NP_001372836.1:n.106+2322A>G
NM_001385909.1:c.106+2322A>G NP_001372838.1:n.106+2322A>G
NM_001385910.1:c.-349+2322A>G NP_001372839.1:n.-349+2322A>G
NM_001385912.1:c.-356+2322A>G NP_001372841.1:n.-356+2322A>G
NM_001385913.1:c.106+2322A>G NP_001372842.1:n.106+2322A>G
NM_001385914.1:c.-349+2322A>G NP_001372843.1:n.-349+2322A>G