Canonical Allele Identifier: CA933716679
Gene: CLRN3 HGNC NCBI
gnomAD v3:
10:127880410 T / G
gnomAD v4:
chr10-127880410-T-G
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
6482992
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.127880410T>G , CM000672.2:g.127880410T>G GRCh38
NC_000010.10:g.129678674T>G , CM000672.1:g.129678674T>G GRCh37
NC_000010.9:g.129568664T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368671.4:c.410-1990A>C MANE Select ENSP00000357660.3:n.410-1990A>C
ENST00000368671.3:c.410-1990A>C ENSP00000357660.3:n.410-1990A>C
NM_152311.3:c.410-1990A>C NP_689524.1:n.410-1990A>C
XM_011539274.1:c.230-1990A>C XP_011537576.1:n.230-1990A>C
NM_152311.4:c.410-1990A>C NP_689524.1:n.410-1990A>C
XM_011539274.2:c.230-1990A>C XP_011537576.1:n.230-1990A>C
NM_152311.5:c.410-1990A>C MANE Select NP_689524.1:n.410-1990A>C
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