Canonical Allele Identifier: CA2666188

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 227257
• ClinVar RCV Id: RCV000220367 ; RCV000726594 ; RCV001275853
• dbSNP Id: rs139829306
• ExAC: 3:150690270 A / G
• gnomAD v2: 3-150690270-A-G
• gnomAD v3: 3-150972483-A-G
• gnomAD v4: 3-150972483-A-G
• MyVariant Identifiers: chr3:g.150690270A>G (hg19) ; chr3:g.150972483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972483A>G , CM000665.2:g.150972483A>G	GRCh38
NC_000003.11:g.150690270A>G , CM000665.1:g.150690270A>G	GRCh37
NC_000003.10:g.152172960A>G	NCBI36
NG_009168.1:g.5517T>C , LRG_700:g.5517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.226T>C MANE Select	ENSP00000322280.1:p.Leu76=
ENST00000468836.2:c.202T>C	ENSP00000419892.2:p.Leu68=
ENST00000644099.1:c.67T>C	ENSP00000494762.1:p.Leu23=
ENST00000645441.1:c.68T>C
ENST00000327047.5:c.226T>C	ENSP00000322280.1:p.Leu76=
ENST00000328863.8:c.226T>C	ENSP00000329158.4:p.Leu76=
ENST00000468836.1:c.-175T>C	ENSP00000419892.1:n.-175T>C
ENST00000472224.1:n.232T>C
NM_001195794.1:c.226T>C , LRG_700t1:c.226T>C	NP_001182723.1:p.Leu76=
NM_001256819.1:c.226T>C	NP_001243748.1:p.Leu76=
NM_174878.2:c.226T>C	NP_777367.1:p.Leu76=
NR_046380.2:n.517T>C
XR_924167.1:n.538T>C
NM_001256819.2:c.226T>C	NP_001243748.1:p.Leu76=
NM_174878.3:c.226T>C MANE Select	NP_777367.1:p.Leu76=
NR_046380.3:n.245T>C