Canonical Allele Identifier: CA16040903

Gene: CLRN1 CLRN1-AS1

Linked Data

• ClinVar Variation Id: 371376
• ClinVar RCV Id: RCV000412180 ; RCV002523872
• dbSNP Id: rs1057517224
• MyVariant Identifiers: chr3:g.150690483G>A (hg19) ; chr3:g.150972696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972696G>A , CM000665.2:g.150972696G>A	GRCh38
NC_000003.11:g.150690483G>A , CM000665.1:g.150690483G>A	GRCh37
NC_000003.10:g.152173173G>A	NCBI36
NG_009168.1:g.5304C>T , LRG_700:g.5304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.13C>T (CLRN1) MANE Select	ENSP00000322280.1:p.Gln5Ter
ENST00000327047.5:c.13C>T (CLRN1)	ENSP00000322280.1:p.Gln5Ter
ENST00000328863.8:c.13C>T (CLRN1)	ENSP00000329158.4:p.Gln5Ter
ENST00000472224.1:n.19C>T (CLRN1)
NM_001195794.1:c.13C>T , LRG_700t1:c.13C>T (CLRN1)	NP_001182723.1:p.Gln5Ter
NM_001256819.1:c.13C>T (CLRN1)	NP_001243748.1:p.Gln5Ter
NM_174878.2:c.13C>T (CLRN1)	NP_777367.1:p.Gln5Ter
NR_024066.1:n.19G>A (CLRN1-AS1)
NR_046380.2:n.304C>T (CLRN1)
XR_924167.1:n.325C>T (CLRN1)
NR_024066.2:n.19G>A (CLRN1-AS1)
NM_001256819.2:c.13C>T (CLRN1)	NP_001243748.1:p.Gln5Ter
NM_174878.3:c.13C>T (CLRN1) MANE Select	NP_777367.1:p.Gln5Ter
NR_046380.3:n.32C>T (CLRN1)