Canonical Allele Identifier: CA436393850

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2046895
• ClinVar RCV Id: RCV002926714
• MyVariant Identifiers: chr3:g.150645768A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927981A>C , CM000665.2:g.150927981A>C	GRCh38
NC_000003.11:g.150645768A>C , CM000665.1:g.150645768A>C	GRCh37
NC_000003.10:g.152128458A>C	NCBI36
NG_009168.1:g.50019T>G , LRG_700:g.50019T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.654T>G MANE Select	ENSP00000322280.1:p.Ser218=
ENST00000295911.6:c.342+84T>G	ENSP00000295911.2:n.342+84T>G
ENST00000327047.5:c.654T>G	ENSP00000322280.1:p.Ser218=
ENST00000328863.8:c.693T>G	ENSP00000329158.4:p.Ser231=
ENST00000562308.5:c.104+13601T>G
ENST00000565169.1:c.162+13601T>G
ENST00000569170.5:c.162+13601T>G
NM_001195794.1:c.693T>G , LRG_700t1:c.693T>G	NP_001182723.1:p.Ser231=
NM_001256819.1:c.*268T>G	NP_001243748.1:n.*268T>G
NM_052995.2:c.342+84T>G , LRG_700t2:c.342+84T>G	NP_443721.1:n.342+84T>G
NM_174878.2:c.654T>G	NP_777367.1:p.Ser218=
NR_046380.2:n.1135T>G
XR_924167.1:n.966T>G
NM_001256819.2:c.*268T>G	NP_001243748.1:n.*268T>G
NM_174878.3:c.654T>G MANE Select	NP_777367.1:p.Ser218=
NR_046380.3:n.863T>G