Canonical Allele Identifier: CA2666094

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 3002324
• ClinVar RCV Id: RCV003865451
• dbSNP Id: rs774407660
• ExAC: 3:150659508 G / A
• gnomAD v2: 3-150659508-G-A
• gnomAD v4: 3-150941721-G-A
• COSMIC: COSM3784360 ; COSM3784361
• MyVariant Identifiers: chr3:g.150659508G>A (hg19) ; chr3:g.150941721G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.294C>T MANE Select	ENSP00000322280.1:p.His98=
ENST00000468836.2:c.442C>T	ENSP00000419892.2:p.Arg148Cys
ENST00000644099.1:c.286C>T	ENSP00000494762.1:n.286C>T
ENST00000295911.6:c.66C>T	ENSP00000295911.2:p.His22=
ENST00000327047.5:c.294C>T	ENSP00000322280.1:p.His98=
ENST00000328863.8:c.294C>T	ENSP00000329158.4:p.His98=
ENST00000468836.1:c.66C>T	ENSP00000419892.1:p.His22=
ENST00000472224.1:n.300C>T
ENST00000485607.1:c.-43C>T	ENSP00000419244.1:n.-43C>T
ENST00000565169.1:c.23C>T
ENST00000569170.5:c.23C>T
NM_001195794.1:c.294C>T , LRG_700t1:c.294C>T	NP_001182723.1:p.His98=
NM_001256819.1:c.466C>T	NP_001243748.1:p.Arg156Cys
NM_052995.2:c.66C>T , LRG_700t2:c.66C>T	NP_443721.1:p.His22=
NM_174878.2:c.294C>T	NP_777367.1:p.His98=
NR_046380.2:n.736C>T
XR_924167.1:n.606C>T
NM_001256819.2:c.466C>T	NP_001243748.1:p.Arg156Cys
NM_174878.3:c.294C>T MANE Select	NP_777367.1:p.His98=
NR_046380.3:n.464C>T