Canonical Allele Identifier: CA354955625

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2157880
• ClinVar RCV Id: RCV003079692
• dbSNP Id: rs1484791801
• gnomAD v3: 3-150941666-C-T
• gnomAD v4: 3-150941666-C-T
• MyVariant Identifiers: chr3:g.150659453C>T (hg19) ; chr3:g.150941666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941666C>T , CM000665.2:g.150941666C>T	GRCh38
NC_000003.11:g.150659453C>T , CM000665.1:g.150659453C>T	GRCh37
NC_000003.10:g.152142143C>T	NCBI36
NG_009168.1:g.36334G>A , LRG_700:g.36334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.349G>A MANE Select	ENSP00000322280.1:p.Ala117Thr
ENST00000468836.2:c.497G>A	ENSP00000419892.2:p.Ser166Asn
ENST00000644099.1:c.341G>A	ENSP00000494762.1:n.341G>A
ENST00000295911.6:c.121G>A	ENSP00000295911.2:p.Ala41Thr
ENST00000327047.5:c.349G>A	ENSP00000322280.1:p.Ala117Thr
ENST00000328863.8:c.349G>A	ENSP00000329158.4:p.Ala117Thr
ENST00000468836.1:c.121G>A	ENSP00000419892.1:p.Ala41Thr
ENST00000472224.1:n.355G>A
ENST00000485607.1:c.13G>A	ENSP00000419244.1:p.Ala5Thr
ENST00000562308.5:c.20G>A
ENST00000565169.1:c.78G>A
ENST00000569170.5:c.78G>A
NM_001195794.1:c.349G>A , LRG_700t1:c.349G>A	NP_001182723.1:p.Ala117Thr
NM_001256819.1:c.521G>A	NP_001243748.1:p.Ser174Asn
NM_052995.2:c.121G>A , LRG_700t2:c.121G>A	NP_443721.1:p.Ala41Thr
NM_174878.2:c.349G>A	NP_777367.1:p.Ala117Thr
NR_046380.2:n.791G>A
XR_924167.1:n.661G>A
NM_001256819.2:c.521G>A	NP_001243748.1:p.Ser174Asn
NM_174878.3:c.349G>A MANE Select	NP_777367.1:p.Ala117Thr
NR_046380.3:n.519G>A