Canonical Allele Identifier: CA354955584

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1509681
• ClinVar RCV Id: RCV002018086
• dbSNP Id: rs2107951094
• gnomAD v4: 3-150941661-G-T
• MyVariant Identifiers: chr3:g.150659448G>T (hg19) ; chr3:g.150941661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941661G>T , CM000665.2:g.150941661G>T	GRCh38
NC_000003.11:g.150659448G>T , CM000665.1:g.150659448G>T	GRCh37
NC_000003.10:g.152142138G>T	NCBI36
NG_009168.1:g.36339C>A , LRG_700:g.36339C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.354C>A MANE Select	ENSP00000322280.1:p.Phe118Leu
ENST00000468836.2:c.502C>A	ENSP00000419892.2:p.Leu168Ile
ENST00000644099.1:c.346C>A	ENSP00000494762.1:n.346C>A
ENST00000295911.6:c.126C>A	ENSP00000295911.2:p.Phe42Leu
ENST00000327047.5:c.354C>A	ENSP00000322280.1:p.Phe118Leu
ENST00000328863.8:c.354C>A	ENSP00000329158.4:p.Phe118Leu
ENST00000468836.1:c.126C>A	ENSP00000419892.1:p.Phe42Leu
ENST00000472224.1:n.360C>A
ENST00000485607.1:c.18C>A	ENSP00000419244.1:p.Phe6Leu
ENST00000562308.5:c.25C>A
ENST00000565169.1:c.83C>A
ENST00000569170.5:c.83C>A
NM_001195794.1:c.354C>A , LRG_700t1:c.354C>A	NP_001182723.1:p.Phe118Leu
NM_001256819.1:c.526C>A	NP_001243748.1:p.Leu176Ile
NM_052995.2:c.126C>A , LRG_700t2:c.126C>A	NP_443721.1:p.Phe42Leu
NM_174878.2:c.354C>A	NP_777367.1:p.Phe118Leu
NR_046380.2:n.796C>A
XR_924167.1:n.666C>A
NM_001256819.2:c.526C>A	NP_001243748.1:p.Leu176Ile
NM_174878.3:c.354C>A MANE Select	NP_777367.1:p.Phe118Leu
NR_046380.3:n.524C>A