Canonical Allele Identifier: CA354955630

Gene: CLRN1

Linked Data

• dbSNP Id: rs2107951132
• gnomAD v4: 3-150941668-G-C
• MyVariant Identifiers: chr3:g.150659455G>C (hg19) ; chr3:g.150941668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941668G>C , CM000665.2:g.150941668G>C	GRCh38
NC_000003.11:g.150659455G>C , CM000665.1:g.150659455G>C	GRCh37
NC_000003.10:g.152142145G>C	NCBI36
NG_009168.1:g.36332C>G , LRG_700:g.36332C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.347C>G MANE Select	ENSP00000322280.1:p.Thr116Arg
ENST00000468836.2:c.495C>G	ENSP00000419892.2:p.Asp165Glu
ENST00000644099.1:c.339C>G	ENSP00000494762.1:n.339C>G
ENST00000295911.6:c.119C>G	ENSP00000295911.2:p.Thr40Arg
ENST00000327047.5:c.347C>G	ENSP00000322280.1:p.Thr116Arg
ENST00000328863.8:c.347C>G	ENSP00000329158.4:p.Thr116Arg
ENST00000468836.1:c.119C>G	ENSP00000419892.1:p.Thr40Arg
ENST00000472224.1:n.353C>G
ENST00000485607.1:c.11C>G	ENSP00000419244.1:p.Thr4Arg
ENST00000562308.5:c.18C>G
ENST00000565169.1:c.76C>G
ENST00000569170.5:c.76C>G
NM_001195794.1:c.347C>G , LRG_700t1:c.347C>G	NP_001182723.1:p.Thr116Arg
NM_001256819.1:c.519C>G	NP_001243748.1:p.Asp173Glu
NM_052995.2:c.119C>G , LRG_700t2:c.119C>G	NP_443721.1:p.Thr40Arg
NM_174878.2:c.347C>G	NP_777367.1:p.Thr116Arg
NR_046380.2:n.789C>G
XR_924167.1:n.659C>G
NM_001256819.2:c.519C>G	NP_001243748.1:p.Asp173Glu
NM_174878.3:c.347C>G MANE Select	NP_777367.1:p.Thr116Arg
NR_046380.3:n.517C>G