Canonical Allele Identifier: CA2666179

Gene: CLRN1

Linked Data

• dbSNP Id: rs761225726
• ExAC: 3:150690238 C / G
• gnomAD v2: 3-150690238-C-G
• gnomAD v3: 3-150972451-C-G
• gnomAD v4: 3-150972451-C-G
• MyVariant Identifiers: chr3:g.150690238C>G (hg19) ; chr3:g.150972451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972451C>G , CM000665.2:g.150972451C>G	GRCh38
NC_000003.11:g.150690238C>G , CM000665.1:g.150690238C>G	GRCh37
NC_000003.10:g.152172928C>G	NCBI36
NG_009168.1:g.5549G>C , LRG_700:g.5549G>C

Transcript Alleles

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