Canonical Allele Identifier: CA2666081

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1301825
• ClinVar RCV Id: RCV001733774 ; RCV003771896
• dbSNP Id: rs764099313
• ExAC: 3:150659446 A / G
• gnomAD v2: 3-150659446-A-G
• gnomAD v4: 3-150941659-A-G
• MyVariant Identifiers: chr3:g.150659446A>G (hg19) ; chr3:g.150941659A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941659A>G , CM000665.2:g.150941659A>G	GRCh38
NC_000003.11:g.150659446A>G , CM000665.1:g.150659446A>G	GRCh37
NC_000003.10:g.152142136A>G	NCBI36
NG_009168.1:g.36341T>C , LRG_700:g.36341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.356T>C MANE Select	ENSP00000322280.1:p.Phe119Ser
ENST00000468836.2:c.504T>C	ENSP00000419892.2:p.Leu168=
ENST00000644099.1:c.348T>C	ENSP00000494762.1:n.348T>C
ENST00000295911.6:c.128T>C	ENSP00000295911.2:p.Phe43Ser
ENST00000327047.5:c.356T>C	ENSP00000322280.1:p.Phe119Ser
ENST00000328863.8:c.356T>C	ENSP00000329158.4:p.Phe119Ser
ENST00000468836.1:c.128T>C	ENSP00000419892.1:p.Phe43Ser
ENST00000472224.1:n.362T>C
ENST00000485607.1:c.20T>C	ENSP00000419244.1:p.Phe7Ser
ENST00000562308.5:c.27T>C
ENST00000565169.1:c.85T>C
ENST00000569170.5:c.85T>C
NM_001195794.1:c.356T>C , LRG_700t1:c.356T>C	NP_001182723.1:p.Phe119Ser
NM_001256819.1:c.528T>C	NP_001243748.1:p.Leu176=
NM_052995.2:c.128T>C , LRG_700t2:c.128T>C	NP_443721.1:p.Phe43Ser
NM_174878.2:c.356T>C	NP_777367.1:p.Phe119Ser
NR_046380.2:n.798T>C
XR_924167.1:n.668T>C
NM_001256819.2:c.528T>C	NP_001243748.1:p.Leu176=
NM_174878.3:c.356T>C MANE Select	NP_777367.1:p.Phe119Ser
NR_046380.3:n.526T>C