Canonical Allele Identifier: CA355011994

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 2800316
• ClinVar RCV Id: RCV003671446
• MyVariant Identifiers: chr3:g.150690369C>G (hg19) ; chr3:g.150972582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972582C>G , CM000665.2:g.150972582C>G	GRCh38
NC_000003.11:g.150690369C>G , CM000665.1:g.150690369C>G	GRCh37
NC_000003.10:g.152173059C>G	NCBI36
NG_009168.1:g.5418G>C , LRG_700:g.5418G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.127G>C MANE Select	ENSP00000322280.1:p.Gly43Arg
ENST00000468836.2:c.103G>C	ENSP00000419892.2:p.Gly35Arg
ENST00000327047.5:c.127G>C	ENSP00000322280.1:p.Gly43Arg
ENST00000328863.8:c.127G>C	ENSP00000329158.4:p.Gly43Arg
ENST00000468836.1:c.-274G>C	ENSP00000419892.1:n.-274G>C
ENST00000472224.1:n.133G>C
NM_001195794.1:c.127G>C , LRG_700t1:c.127G>C	NP_001182723.1:p.Gly43Arg
NM_001256819.1:c.127G>C	NP_001243748.1:p.Gly43Arg
NM_174878.2:c.127G>C	NP_777367.1:p.Gly43Arg
NR_046380.2:n.418G>C
XR_924167.1:n.439G>C
NM_001256819.2:c.127G>C	NP_001243748.1:p.Gly43Arg
NM_174878.3:c.127G>C MANE Select	NP_777367.1:p.Gly43Arg
NR_046380.3:n.146G>C