Canonical Allele Identifier: CA116825
Gene: CLRN1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.150972565A>C
GRCh37 chr3:g.150690352A>C
Revel Score:
ENST00000327047 (MANE Select) 0.522
ENST00000328863 0.522
gnomAD v2:
3:150690352 A / C
gnomAD v3:
3:150972565 A / C
gnomAD v4:
chr3-150972565-A-C
Joint Max Group AF 0.00001533 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972565A>C , CM000665.2:g.150972565A>C GRCh38
NC_000003.11:g.150690352A>C , CM000665.1:g.150690352A>C GRCh37
NC_000003.10:g.152173042A>C NCBI36
NG_009168.1:g.5435T>G , LRG_700:g.5435T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.144T>G MANE Select ENSP00000322280.1:p.Asn48Lys
ENST00000468836.2:c.120T>G ENSP00000419892.2:p.Asn40Lys
ENST00000327047.5:c.144T>G ENSP00000322280.1:p.Asn48Lys
ENST00000328863.8:c.144T>G ENSP00000329158.4:p.Asn48Lys
ENST00000468836.1:c.-257T>G ENSP00000419892.1:n.-257T>G
ENST00000472224.1:n.150T>G
NM_001195794.1:c.144T>G , LRG_700t1:c.144T>G NP_001182723.1:p.Asn48Lys
NM_001256819.1:c.144T>G NP_001243748.1:p.Asn48Lys
NM_174878.2:c.144T>G NP_777367.1:p.Asn48Lys
NR_046380.2:n.435T>G
XR_924167.1:n.456T>G
NM_001256819.2:c.144T>G NP_001243748.1:p.Asn48Lys
NM_174878.3:c.144T>G MANE Select NP_777367.1:p.Asn48Lys
NR_046380.3:n.163T>G
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