Canonical Allele Identifier: CA85947813

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 901062
• ClinVar RCV Id: RCV001146710
• dbSNP Id: rs903439082
• gnomAD v2: 3-150690311-T-C
• gnomAD v4: 3-150972524-T-C
• MyVariant Identifiers: chr3:g.150690311T>C (hg19) ; chr3:g.150972524T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972524T>C , CM000665.2:g.150972524T>C	GRCh38
NC_000003.11:g.150690311T>C , CM000665.1:g.150690311T>C	GRCh37
NC_000003.10:g.152173001T>C	NCBI36
NG_009168.1:g.5476A>G , LRG_700:g.5476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.185A>G MANE Select	ENSP00000322280.1:p.Gln62Arg
ENST00000468836.2:c.161A>G	ENSP00000419892.2:p.Gln54Arg
ENST00000644099.1:c.26A>G	ENSP00000494762.1:p.Gln9Arg
ENST00000645441.1:c.27A>G
ENST00000327047.5:c.185A>G	ENSP00000322280.1:p.Gln62Arg
ENST00000328863.8:c.185A>G	ENSP00000329158.4:p.Gln62Arg
ENST00000468836.1:c.-216A>G	ENSP00000419892.1:n.-216A>G
ENST00000472224.1:n.191A>G
NM_001195794.1:c.185A>G , LRG_700t1:c.185A>G	NP_001182723.1:p.Gln62Arg
NM_001256819.1:c.185A>G	NP_001243748.1:p.Gln62Arg
NM_174878.2:c.185A>G	NP_777367.1:p.Gln62Arg
NR_046380.2:n.476A>G
XR_924167.1:n.497A>G
NM_001256819.2:c.185A>G	NP_001243748.1:p.Gln62Arg
NM_174878.3:c.185A>G MANE Select	NP_777367.1:p.Gln62Arg
NR_046380.3:n.204A>G