Canonical Allele Identifier: CA355011974

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2111258
• ClinVar RCV Id: RCV003022567
• gnomAD v4: 3-150972570-C-T
• COSMIC: COSM5436010 ; COSM5436011
• MyVariant Identifiers: chr3:g.150690357C>T (hg19) ; chr3:g.150972570C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972570C>T , CM000665.2:g.150972570C>T	GRCh38
NC_000003.11:g.150690357C>T , CM000665.1:g.150690357C>T	GRCh37
NC_000003.10:g.152173047C>T	NCBI36
NG_009168.1:g.5430G>A , LRG_700:g.5430G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.139G>A MANE Select	ENSP00000322280.1:p.Val47Ile
ENST00000468836.2:c.115G>A	ENSP00000419892.2:p.Val39Ile
ENST00000327047.5:c.139G>A	ENSP00000322280.1:p.Val47Ile
ENST00000328863.8:c.139G>A	ENSP00000329158.4:p.Val47Ile
ENST00000468836.1:c.-262G>A	ENSP00000419892.1:n.-262G>A
ENST00000472224.1:n.145G>A
NM_001195794.1:c.139G>A , LRG_700t1:c.139G>A	NP_001182723.1:p.Val47Ile
NM_001256819.1:c.139G>A	NP_001243748.1:p.Val47Ile
NM_174878.2:c.139G>A	NP_777367.1:p.Val47Ile
NR_046380.2:n.430G>A
XR_924167.1:n.451G>A
NM_001256819.2:c.139G>A	NP_001243748.1:p.Val47Ile
NM_174878.3:c.139G>A MANE Select	NP_777367.1:p.Val47Ile
NR_046380.3:n.158G>A