Canonical Allele Identifier: CA354955557

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941657-T-C
• MyVariant Identifiers: chr3:g.150659444T>C (hg19) ; chr3:g.150941657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941657T>C , CM000665.2:g.150941657T>C	GRCh38
NC_000003.11:g.150659444T>C , CM000665.1:g.150659444T>C	GRCh37
NC_000003.10:g.152142134T>C	NCBI36
NG_009168.1:g.36343A>G , LRG_700:g.36343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.358A>G MANE Select	ENSP00000322280.1:p.Met120Val
ENST00000468836.2:c.506A>G	ENSP00000419892.2:p.His169Arg
ENST00000644099.1:c.350A>G	ENSP00000494762.1:n.350A>G
ENST00000295911.6:c.130A>G	ENSP00000295911.2:p.Met44Val
ENST00000327047.5:c.358A>G	ENSP00000322280.1:p.Met120Val
ENST00000328863.8:c.358A>G	ENSP00000329158.4:p.Met120Val
ENST00000468836.1:c.130A>G	ENSP00000419892.1:p.Met44Val
ENST00000472224.1:n.364A>G
ENST00000485607.1:c.22A>G	ENSP00000419244.1:p.Met8Val
ENST00000562308.5:c.29A>G
ENST00000565169.1:c.87A>G
ENST00000569170.5:c.87A>G
NM_001195794.1:c.358A>G , LRG_700t1:c.358A>G	NP_001182723.1:p.Met120Val
NM_001256819.1:c.530A>G	NP_001243748.1:p.His177Arg
NM_052995.2:c.130A>G , LRG_700t2:c.130A>G	NP_443721.1:p.Met44Val
NM_174878.2:c.358A>G	NP_777367.1:p.Met120Val
NR_046380.2:n.800A>G
XR_924167.1:n.670A>G
NM_001256819.2:c.530A>G	NP_001243748.1:p.His177Arg
NM_174878.3:c.358A>G MANE Select	NP_777367.1:p.Met120Val
NR_046380.3:n.528A>G