Canonical Allele Identifier: CA355011769

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2119799
• ClinVar RCV Id: RCV003033274
• gnomAD v4: 3-150972473-C-T
• MyVariant Identifiers: chr3:g.150690260C>T (hg19) ; chr3:g.150972473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972473C>T , CM000665.2:g.150972473C>T	GRCh38
NC_000003.11:g.150690260C>T , CM000665.1:g.150690260C>T	GRCh37
NC_000003.10:g.152172950C>T	NCBI36
NG_009168.1:g.5527G>A , LRG_700:g.5527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.236G>A MANE Select	ENSP00000322280.1:p.Arg79Lys
ENST00000468836.2:c.212G>A	ENSP00000419892.2:p.Arg71Lys
ENST00000644099.1:c.77G>A	ENSP00000494762.1:p.Arg26Lys
ENST00000645441.1:c.78G>A
ENST00000327047.5:c.236G>A	ENSP00000322280.1:p.Arg79Lys
ENST00000328863.8:c.236G>A	ENSP00000329158.4:p.Arg79Lys
ENST00000468836.1:c.-165G>A	ENSP00000419892.1:n.-165G>A
ENST00000472224.1:n.242G>A
NM_001195794.1:c.236G>A , LRG_700t1:c.236G>A	NP_001182723.1:p.Arg79Lys
NM_001256819.1:c.236G>A	NP_001243748.1:p.Arg79Lys
NM_174878.2:c.236G>A	NP_777367.1:p.Arg79Lys
NR_046380.2:n.527G>A
XR_924167.1:n.548G>A
NM_001256819.2:c.236G>A	NP_001243748.1:p.Arg79Lys
NM_174878.3:c.236G>A MANE Select	NP_777367.1:p.Arg79Lys
NR_046380.3:n.255G>A