Canonical Allele Identifier: CA182098

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 178318
• ClinVar RCV Id: RCV000155062 ; RCV000382986 ; RCV000907924 ; RCV001273479
• dbSNP Id: rs148752352
• ExAC: 3:150645762 G / A
• gnomAD v2: 3-150645762-G-A
• gnomAD v3: 3-150927975-G-A
• gnomAD v4: 3-150927975-G-A
• MyVariant Identifiers: chr3:g.150645762G>A (hg19) ; chr3:g.150927975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927975G>A , CM000665.2:g.150927975G>A	GRCh38
NC_000003.11:g.150645762G>A , CM000665.1:g.150645762G>A	GRCh37
NC_000003.10:g.152128452G>A	NCBI36
NG_009168.1:g.50025C>T , LRG_700:g.50025C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.660C>T MANE Select	ENSP00000322280.1:p.Asp220=
ENST00000295911.6:c.342+90C>T	ENSP00000295911.2:n.342+90C>T
ENST00000327047.5:c.660C>T	ENSP00000322280.1:p.Asp220=
ENST00000328863.8:c.699C>T	ENSP00000329158.4:p.Asp233=
ENST00000562308.5:c.104+13607C>T
ENST00000565169.1:c.162+13607C>T
ENST00000569170.5:c.162+13607C>T
NM_001195794.1:c.699C>T , LRG_700t1:c.699C>T	NP_001182723.1:p.Asp233=
NM_001256819.1:c.*274C>T	NP_001243748.1:n.*274C>T
NM_052995.2:c.342+90C>T , LRG_700t2:c.342+90C>T	NP_443721.1:n.342+90C>T
NM_174878.2:c.660C>T	NP_777367.1:p.Asp220=
NR_046380.2:n.1141C>T
XR_924167.1:n.972C>T
NM_001256819.2:c.*274C>T	NP_001243748.1:n.*274C>T
NM_174878.3:c.660C>T MANE Select	NP_777367.1:p.Asp220=
NR_046380.3:n.869C>T