Canonical Allele Identifier: CA85947805

Gene: CLRN1

Linked Data

• dbSNP Id: rs907692410
• gnomAD v3: 3-150972395-T-C
• gnomAD v4: 3-150972395-T-C
• MyVariant Identifiers: chr3:g.150690182T>C (hg19) ; chr3:g.150972395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972395T>C , CM000665.2:g.150972395T>C	GRCh38
NC_000003.11:g.150690182T>C , CM000665.1:g.150690182T>C	GRCh37
NC_000003.10:g.152172872T>C	NCBI36
NG_009168.1:g.5605A>G , LRG_700:g.5605A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.253+61A>G MANE Select	ENSP00000322280.1:n.253+61A>G
ENST00000468836.2:c.229+61A>G	ENSP00000419892.2:n.229+61A>G
ENST00000644099.1:c.94+61A>G	ENSP00000494762.1:n.94+61A>G
ENST00000645441.1:c.95+61A>G
ENST00000327047.5:c.253+61A>G	ENSP00000322280.1:n.253+61A>G
ENST00000328863.8:c.253+61A>G	ENSP00000329158.4:n.253+61A>G
ENST00000468836.1:c.-148+61A>G	ENSP00000419892.1:n.-148+61A>G
ENST00000472224.1:n.259+61A>G
NM_001195794.1:c.253+61A>G , LRG_700t1:c.253+61A>G	NP_001182723.1:n.253+61A>G
NM_001256819.1:c.253+61A>G	NP_001243748.1:n.253+61A>G
NM_174878.2:c.253+61A>G	NP_777367.1:n.253+61A>G
NR_046380.2:n.544+61A>G
XR_924167.1:n.565+61A>G
NM_001256819.2:c.253+61A>G	NP_001243748.1:n.253+61A>G
NM_174878.3:c.253+61A>G MANE Select	NP_777367.1:n.253+61A>G
NR_046380.3:n.272+61A>G