Canonical Allele Identifier: CA354956012

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1407240
• ClinVar RCV Id: RCV001937743
• dbSNP Id: rs774407660
• MyVariant Identifiers: chr3:g.150659508G>T (hg19) ; chr3:g.150941721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941721G>T , CM000665.2:g.150941721G>T	GRCh38
NC_000003.11:g.150659508G>T , CM000665.1:g.150659508G>T	GRCh37
NC_000003.10:g.152142198G>T	NCBI36
NG_009168.1:g.36279C>A , LRG_700:g.36279C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.294C>A MANE Select	ENSP00000322280.1:p.His98Gln
ENST00000468836.2:c.442C>A	ENSP00000419892.2:p.Arg148Ser
ENST00000644099.1:c.286C>A	ENSP00000494762.1:n.286C>A
ENST00000295911.6:c.66C>A	ENSP00000295911.2:p.His22Gln
ENST00000327047.5:c.294C>A	ENSP00000322280.1:p.His98Gln
ENST00000328863.8:c.294C>A	ENSP00000329158.4:p.His98Gln
ENST00000468836.1:c.66C>A	ENSP00000419892.1:p.His22Gln
ENST00000472224.1:n.300C>A
ENST00000485607.1:c.-43C>A	ENSP00000419244.1:n.-43C>A
ENST00000565169.1:c.23C>A
ENST00000569170.5:c.23C>A
NM_001195794.1:c.294C>A , LRG_700t1:c.294C>A	NP_001182723.1:p.His98Gln
NM_001256819.1:c.466C>A	NP_001243748.1:p.Arg156Ser
NM_052995.2:c.66C>A , LRG_700t2:c.66C>A	NP_443721.1:p.His22Gln
NM_174878.2:c.294C>A	NP_777367.1:p.His98Gln
NR_046380.2:n.736C>A
XR_924167.1:n.606C>A
NM_001256819.2:c.466C>A	NP_001243748.1:p.Arg156Ser
NM_174878.3:c.294C>A MANE Select	NP_777367.1:p.His98Gln
NR_046380.3:n.464C>A