Canonical Allele Identifier: CA192348782

Gene: RIGI

Linked Data

• dbSNP Id: rs867392330
• gnomAD v2: 9-32455690-C-A
• gnomAD v3: 9-32455692-C-A
• gnomAD v4: 9-32455692-C-A
• MyVariant Identifiers: chr9:g.32455690C>A (hg19) ; chr9:g.32455692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32455692C>A , CM000671.2:g.32455692C>A	GRCh38
NC_000009.11:g.32455690C>A , CM000671.1:g.32455690C>A	GRCh37
NC_000009.10:g.32445690C>A	NCBI36
NG_046918.1:g.75633G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379868.6:c.*1430G>T	ENSP00000369197.2:n.*1430G>T
ENST00000379883.3:c.*1430G>T MANE Select	ENSP00000369213.2:n.*1430G>T
ENST00000679665.1:c.*1430G>T	ENSP00000504921.1:n.*1430G>T
ENST00000679771.1:c.*3631G>T	ENSP00000505015.1:n.*3631G>T
ENST00000680198.1:c.*3976G>T	ENSP00000505143.1:n.*3976G>T
ENST00000681750.1:c.*1430G>T	ENSP00000506413.1:n.*1430G>T
NM_014314.3:c.*1430G>T	NP_055129.2:n.*1430G>T
NM_014314.4:c.*1430G>T MANE Select	NP_055129.2:n.*1430G>T
NM_001385907.1:c.*1430G>T	NP_001372836.1:n.*1430G>T
NM_001385909.1:c.*1430G>T	NP_001372838.1:n.*1430G>T
NM_001385910.1:c.*1430G>T	NP_001372839.1:n.*1430G>T
NM_001385912.1:c.*1430G>T	NP_001372841.1:n.*1430G>T
NM_001385913.1:c.*1430G>T	NP_001372842.1:n.*1430G>T
NM_001385914.1:c.*1430G>T	NP_001372843.1:n.*1430G>T