Canonical Allele Identifier: CA2666072

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 938719
• ClinVar RCV Id: RCV001207994 ; RCV001828664 ; RCV004033718
• dbSNP Id: rs368175674
• ExAC: 3:150659402 G / A
• gnomAD v2: 3-150659402-G-A
• gnomAD v3: 3-150941615-G-A
• gnomAD v4: 3-150941615-G-A
• MyVariant Identifiers: chr3:g.150659402G>A (hg19) ; chr3:g.150941615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941615G>A , CM000665.2:g.150941615G>A	GRCh38
NC_000003.11:g.150659402G>A , CM000665.1:g.150659402G>A	GRCh37
NC_000003.10:g.152142092G>A	NCBI36
NG_009168.1:g.36385C>T , LRG_700:g.36385C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.400C>T MANE Select	ENSP00000322280.1:p.Pro134Ser
ENST00000468836.2:c.548C>T	ENSP00000419892.2:n.548C>T
ENST00000644099.1:c.392C>T	ENSP00000494762.1:n.392C>T
ENST00000295911.6:c.172C>T	ENSP00000295911.2:p.Pro58Ser
ENST00000327047.5:c.400C>T	ENSP00000322280.1:p.Pro134Ser
ENST00000328863.8:c.400C>T	ENSP00000329158.4:p.Pro134Ser
ENST00000468836.1:c.172C>T	ENSP00000419892.1:p.Pro58Ser
ENST00000472224.1:n.406C>T
ENST00000485607.1:c.64C>T	ENSP00000419244.1:p.Pro22Ser
ENST00000562308.5:c.71C>T
ENST00000565169.1:c.129C>T
ENST00000569170.5:c.129C>T
NM_001195794.1:c.400C>T , LRG_700t1:c.400C>T	NP_001182723.1:p.Pro134Ser
NM_001256819.1:c.*14C>T	NP_001243748.1:n.*14C>T
NM_052995.2:c.172C>T , LRG_700t2:c.172C>T	NP_443721.1:p.Pro58Ser
NM_174878.2:c.400C>T	NP_777367.1:p.Pro134Ser
NR_046380.2:n.842C>T
XR_924167.1:n.712C>T
NM_001256819.2:c.*14C>T	NP_001243748.1:n.*14C>T
NM_174878.3:c.400C>T MANE Select	NP_777367.1:p.Pro134Ser
NR_046380.3:n.570C>T