Canonical Allele Identifier: CA10617739
Gene: CLRN1 HGNC NCBI
CLRN1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 343820
ClinVar RCV Id: RCV000359480
dbSNP Id: rs886058092
gnomAD v2: 3-150690769-T-G
gnomAD v3: 3-150972982-T-G
gnomAD v4: 3-150972982-T-G
MyVariant Identifiers: chr3:g.150690769T>G (hg19) chr3:g.150972982T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972982T>G , CM000665.2:g.150972982T>G GRCh38
NC_000003.11:g.150690769T>G , CM000665.1:g.150690769T>G GRCh37
NC_000003.10:g.152173459T>G NCBI36
NG_009168.1:g.5018A>C , LRG_700:g.5018A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.5:c.-274A>C (CLRN1) ENSP00000322280.1:n.-274A>C
NM_001195794.1:c.-274A>C , LRG_700t1:c.-274A>C (CLRN1) NP_001182723.1:n.-274A>C
NM_001256819.1:c.-274A>C (CLRN1) NP_001243748.1:n.-274A>C
NM_174878.2:c.-274A>C (CLRN1) NP_777367.1:n.-274A>C
NR_024066.1:n.305T>G (CLRN1-AS1)
NR_046380.2:n.18A>C (CLRN1)
XR_924167.1:n.39A>C (CLRN1)
NR_024066.2:n.305T>G (CLRN1-AS1)
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