Canonical Allele Identifier: CA354954835

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 556437
• ClinVar RCV Id: RCV000672444
• dbSNP Id: rs1553772414
• MyVariant Identifiers: chr3:g.150658267C>A (hg19) ; chr3:g.150940480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150940480C>A , CM000665.2:g.150940480C>A	GRCh38
NC_000003.11:g.150658267C>A , CM000665.1:g.150658267C>A	GRCh37
NC_000003.10:g.152140957C>A	NCBI36
NG_009168.1:g.37520G>T , LRG_700:g.37520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.433+1102G>T MANE Select	ENSP00000322280.1:n.433+1102G>T
ENST00000468836.2:c.581+1102G>T	ENSP00000419892.2:n.581+1102G>T
ENST00000295911.6:c.205+1102G>T	ENSP00000295911.2:n.205+1102G>T
ENST00000327047.5:c.433+1102G>T	ENSP00000322280.1:n.433+1102G>T
ENST00000328863.8:c.472+1G>T	ENSP00000329158.4:n.472+1G>T
ENST00000468836.1:c.205+1102G>T	ENSP00000419892.1:n.205+1102G>T
ENST00000485607.1:c.97+1102G>T	ENSP00000419244.1:n.97+1102G>T
ENST00000562308.5:c.104+1102G>T
ENST00000565169.1:c.162+1102G>T
ENST00000569170.5:c.162+1102G>T
NM_001195794.1:c.472+1G>T , LRG_700t1:c.472+1G>T	NP_001182723.1:n.472+1G>T
NM_001256819.1:c.*47+1102G>T	NP_001243748.1:n.*47+1102G>T
NM_052995.2:c.205+1102G>T , LRG_700t2:c.205+1102G>T	NP_443721.1:n.205+1102G>T
NM_174878.2:c.433+1102G>T	NP_777367.1:n.433+1102G>T
NR_046380.2:n.914+1G>T
XR_924167.1:n.745+1102G>T
NM_001256819.2:c.*47+1102G>T	NP_001243748.1:n.*47+1102G>T
NM_174878.3:c.433+1102G>T MANE Select	NP_777367.1:n.433+1102G>T
NR_046380.3:n.642+1G>T