Canonical Allele Identifier: CA355011728

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 3027587
• ClinVar RCV Id: RCV003890841
• MyVariant Identifiers: chr3:g.150690241A>G (hg19) ; chr3:g.150972454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972454A>G , CM000665.2:g.150972454A>G	GRCh38
NC_000003.11:g.150690241A>G , CM000665.1:g.150690241A>G	GRCh37
NC_000003.10:g.152172931A>G	NCBI36
NG_009168.1:g.5546T>C , LRG_700:g.5546T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.253+2T>C MANE Select	ENSP00000322280.1:n.253+2T>C
ENST00000468836.2:c.229+2T>C	ENSP00000419892.2:n.229+2T>C
ENST00000644099.1:c.94+2T>C	ENSP00000494762.1:n.94+2T>C
ENST00000645441.1:c.95+2T>C
ENST00000327047.5:c.253+2T>C	ENSP00000322280.1:n.253+2T>C
ENST00000328863.8:c.253+2T>C	ENSP00000329158.4:n.253+2T>C
ENST00000468836.1:c.-148+2T>C	ENSP00000419892.1:n.-148+2T>C
ENST00000472224.1:n.259+2T>C
NM_001195794.1:c.253+2T>C , LRG_700t1:c.253+2T>C	NP_001182723.1:n.253+2T>C
NM_001256819.1:c.253+2T>C	NP_001243748.1:n.253+2T>C
NM_174878.2:c.253+2T>C	NP_777367.1:n.253+2T>C
NR_046380.2:n.544+2T>C
XR_924167.1:n.565+2T>C
NM_001256819.2:c.253+2T>C	NP_001243748.1:n.253+2T>C
NM_174878.3:c.253+2T>C MANE Select	NP_777367.1:n.253+2T>C
NR_046380.3:n.272+2T>C