Canonical Allele Identifier: CA354955595

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941663-A-C
• MyVariant Identifiers: chr3:g.150659450A>C (hg19) ; chr3:g.150941663A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941663A>C , CM000665.2:g.150941663A>C	GRCh38
NC_000003.11:g.150659450A>C , CM000665.1:g.150659450A>C	GRCh37
NC_000003.10:g.152142140A>C	NCBI36
NG_009168.1:g.36337T>G , LRG_700:g.36337T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.352T>G MANE Select	ENSP00000322280.1:p.Phe118Val
ENST00000468836.2:c.500T>G	ENSP00000419892.2:p.Leu167Arg
ENST00000644099.1:c.344T>G	ENSP00000494762.1:n.344T>G
ENST00000295911.6:c.124T>G	ENSP00000295911.2:p.Phe42Val
ENST00000327047.5:c.352T>G	ENSP00000322280.1:p.Phe118Val
ENST00000328863.8:c.352T>G	ENSP00000329158.4:p.Phe118Val
ENST00000468836.1:c.124T>G	ENSP00000419892.1:p.Phe42Val
ENST00000472224.1:n.358T>G
ENST00000485607.1:c.16T>G	ENSP00000419244.1:p.Phe6Val
ENST00000562308.5:c.23T>G
ENST00000565169.1:c.81T>G
ENST00000569170.5:c.81T>G
NM_001195794.1:c.352T>G , LRG_700t1:c.352T>G	NP_001182723.1:p.Phe118Val
NM_001256819.1:c.524T>G	NP_001243748.1:p.Leu175Arg
NM_052995.2:c.124T>G , LRG_700t2:c.124T>G	NP_443721.1:p.Phe42Val
NM_174878.2:c.352T>G	NP_777367.1:p.Phe118Val
NR_046380.2:n.794T>G
XR_924167.1:n.664T>G
NM_001256819.2:c.524T>G	NP_001243748.1:p.Leu175Arg
NM_174878.3:c.352T>G MANE Select	NP_777367.1:p.Phe118Val
NR_046380.3:n.522T>G