Canonical Allele Identifier: CA355011877

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 556984
• ClinVar RCV Id: RCV000673059
• dbSNP Id: rs1553776052
• gnomAD v4: 3-150972525-G-A
• MyVariant Identifiers: chr3:g.150690312G>A (hg19) ; chr3:g.150972525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972525G>A , CM000665.2:g.150972525G>A	GRCh38
NC_000003.11:g.150690312G>A , CM000665.1:g.150690312G>A	GRCh37
NC_000003.10:g.152173002G>A	NCBI36
NG_009168.1:g.5475C>T , LRG_700:g.5475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.184C>T MANE Select	ENSP00000322280.1:p.Gln62Ter
ENST00000468836.2:c.160C>T	ENSP00000419892.2:p.Gln54Ter
ENST00000644099.1:c.25C>T	ENSP00000494762.1:p.Gln9Ter
ENST00000645441.1:c.26C>T
ENST00000327047.5:c.184C>T	ENSP00000322280.1:p.Gln62Ter
ENST00000328863.8:c.184C>T	ENSP00000329158.4:p.Gln62Ter
ENST00000468836.1:c.-217C>T	ENSP00000419892.1:n.-217C>T
ENST00000472224.1:n.190C>T
NM_001195794.1:c.184C>T , LRG_700t1:c.184C>T	NP_001182723.1:p.Gln62Ter
NM_001256819.1:c.184C>T	NP_001243748.1:p.Gln62Ter
NM_174878.2:c.184C>T	NP_777367.1:p.Gln62Ter
NR_046380.2:n.475C>T
XR_924167.1:n.496C>T
NM_001256819.2:c.184C>T	NP_001243748.1:p.Gln62Ter
NM_174878.3:c.184C>T MANE Select	NP_777367.1:p.Gln62Ter
NR_046380.3:n.203C>T