Canonical Allele Identifier: CA355011797

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1409612
• ClinVar RCV Id: RCV001913805
• dbSNP Id: rs1484564291
• gnomAD v4: 3-150972488-C-T
• MyVariant Identifiers: chr3:g.150690275C>T (hg19) ; chr3:g.150972488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972488C>T , CM000665.2:g.150972488C>T	GRCh38
NC_000003.11:g.150690275C>T , CM000665.1:g.150690275C>T	GRCh37
NC_000003.10:g.152172965C>T	NCBI36
NG_009168.1:g.5512G>A , LRG_700:g.5512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.221G>A MANE Select	ENSP00000322280.1:p.Cys74Tyr
ENST00000468836.2:c.197G>A	ENSP00000419892.2:p.Cys66Tyr
ENST00000644099.1:c.62G>A	ENSP00000494762.1:p.Cys21Tyr
ENST00000645441.1:c.63G>A
ENST00000327047.5:c.221G>A	ENSP00000322280.1:p.Cys74Tyr
ENST00000328863.8:c.221G>A	ENSP00000329158.4:p.Cys74Tyr
ENST00000468836.1:c.-180G>A	ENSP00000419892.1:n.-180G>A
ENST00000472224.1:n.227G>A
NM_001195794.1:c.221G>A , LRG_700t1:c.221G>A	NP_001182723.1:p.Cys74Tyr
NM_001256819.1:c.221G>A	NP_001243748.1:p.Cys74Tyr
NM_174878.2:c.221G>A	NP_777367.1:p.Cys74Tyr
NR_046380.2:n.512G>A
XR_924167.1:n.533G>A
NM_001256819.2:c.221G>A	NP_001243748.1:p.Cys74Tyr
NM_174878.3:c.221G>A MANE Select	NP_777367.1:p.Cys74Tyr
NR_046380.3:n.240G>A