Canonical Allele Identifier: CA436393833

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1604322
• ClinVar RCV Id: RCV002134590
• dbSNP Id: rs1712913892
• gnomAD v4: 3-150927960-A-G
• MyVariant Identifiers: chr3:g.150645747A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927960A>G , CM000665.2:g.150927960A>G	GRCh38
NC_000003.11:g.150645747A>G , CM000665.1:g.150645747A>G	GRCh37
NC_000003.10:g.152128437A>G	NCBI36
NG_009168.1:g.50040T>C , LRG_700:g.50040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.675T>C MANE Select	ENSP00000322280.1:p.Asn225=
ENST00000295911.6:c.342+105T>C	ENSP00000295911.2:n.342+105T>C
ENST00000327047.5:c.675T>C	ENSP00000322280.1:p.Asn225=
ENST00000328863.8:c.714T>C	ENSP00000329158.4:p.Asn238=
ENST00000562308.5:c.104+13622T>C
ENST00000565169.1:c.162+13622T>C
ENST00000569170.5:c.162+13622T>C
NM_001195794.1:c.714T>C , LRG_700t1:c.714T>C	NP_001182723.1:p.Asn238=
NM_001256819.1:c.*289T>C	NP_001243748.1:n.*289T>C
NM_052995.2:c.342+105T>C , LRG_700t2:c.342+105T>C	NP_443721.1:n.342+105T>C
NM_174878.2:c.675T>C	NP_777367.1:p.Asn225=
NR_046380.2:n.1156T>C
XR_924167.1:n.987T>C
NM_001256819.2:c.*289T>C	NP_001243748.1:n.*289T>C
NM_174878.3:c.675T>C MANE Select	NP_777367.1:p.Asn225=
NR_046380.3:n.884T>C