Canonical Allele Identifier: CA2666190

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 504559
• ClinVar RCV Id: RCV000614663 ; RCV000668103 ; RCV001041687 ; RCV001273482
• dbSNP Id: rs201008540
• ExAC: 3:150690278 T / C
• gnomAD v2: 3-150690278-T-C
• gnomAD v3: 3-150972491-T-C
• gnomAD v4: 3-150972491-T-C
• MyVariant Identifiers: chr3:g.150690278T>C (hg19) ; chr3:g.150972491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972491T>C , CM000665.2:g.150972491T>C	GRCh38
NC_000003.11:g.150690278T>C , CM000665.1:g.150690278T>C	GRCh37
NC_000003.10:g.152172968T>C	NCBI36
NG_009168.1:g.5509A>G , LRG_700:g.5509A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.218A>G MANE Select	ENSP00000322280.1:p.Gln73Arg
ENST00000468836.2:c.194A>G	ENSP00000419892.2:p.Gln65Arg
ENST00000644099.1:c.59A>G	ENSP00000494762.1:p.Gln20Arg
ENST00000645441.1:c.60A>G
ENST00000327047.5:c.218A>G	ENSP00000322280.1:p.Gln73Arg
ENST00000328863.8:c.218A>G	ENSP00000329158.4:p.Gln73Arg
ENST00000468836.1:c.-183A>G	ENSP00000419892.1:n.-183A>G
ENST00000472224.1:n.224A>G
NM_001195794.1:c.218A>G , LRG_700t1:c.218A>G	NP_001182723.1:p.Gln73Arg
NM_001256819.1:c.218A>G	NP_001243748.1:p.Gln73Arg
NM_174878.2:c.218A>G	NP_777367.1:p.Gln73Arg
NR_046380.2:n.509A>G
XR_924167.1:n.530A>G
NM_001256819.2:c.218A>G	NP_001243748.1:p.Gln73Arg
NM_174878.3:c.218A>G MANE Select	NP_777367.1:p.Gln73Arg
NR_046380.3:n.237A>G