Canonical Allele Identifier: CA85691691

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 3027586
• ClinVar RCV Id: RCV003890840
• dbSNP Id: rs988324324
• gnomAD v3: 3-150941665-G-A
• gnomAD v4: 3-150941665-G-A
• MyVariant Identifiers: chr3:g.150659452G>A (hg19) ; chr3:g.150941665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941665G>A , CM000665.2:g.150941665G>A	GRCh38
NC_000003.11:g.150659452G>A , CM000665.1:g.150659452G>A	GRCh37
NC_000003.10:g.152142142G>A	NCBI36
NG_009168.1:g.36335C>T , LRG_700:g.36335C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.350C>T MANE Select	ENSP00000322280.1:p.Ala117Val
ENST00000468836.2:c.498C>T	ENSP00000419892.2:p.Ser166=
ENST00000644099.1:c.342C>T	ENSP00000494762.1:n.342C>T
ENST00000295911.6:c.122C>T	ENSP00000295911.2:p.Ala41Val
ENST00000327047.5:c.350C>T	ENSP00000322280.1:p.Ala117Val
ENST00000328863.8:c.350C>T	ENSP00000329158.4:p.Ala117Val
ENST00000468836.1:c.122C>T	ENSP00000419892.1:p.Ala41Val
ENST00000472224.1:n.356C>T
ENST00000485607.1:c.14C>T	ENSP00000419244.1:p.Ala5Val
ENST00000562308.5:c.21C>T
ENST00000565169.1:c.79C>T
ENST00000569170.5:c.79C>T
NM_001195794.1:c.350C>T , LRG_700t1:c.350C>T	NP_001182723.1:p.Ala117Val
NM_001256819.1:c.522C>T	NP_001243748.1:p.Ser174=
NM_052995.2:c.122C>T , LRG_700t2:c.122C>T	NP_443721.1:p.Ala41Val
NM_174878.2:c.350C>T	NP_777367.1:p.Ala117Val
NR_046380.2:n.792C>T
XR_924167.1:n.662C>T
NM_001256819.2:c.522C>T	NP_001243748.1:p.Ser174=
NM_174878.3:c.350C>T MANE Select	NP_777367.1:p.Ala117Val
NR_046380.3:n.520C>T