Canonical Allele Identifier: CA2666092

Gene: CLRN1

Linked Data

• dbSNP Id: rs371895104
• ExAC: 3:150659505 G / C
• gnomAD v2: 3-150659505-G-C
• gnomAD v3: 3-150941718-G-C
• gnomAD v4: 3-150941718-G-C
• MyVariant Identifiers: chr3:g.150659505G>C (hg19) ; chr3:g.150941718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941718G>C , CM000665.2:g.150941718G>C	GRCh38
NC_000003.11:g.150659505G>C , CM000665.1:g.150659505G>C	GRCh37
NC_000003.10:g.152142195G>C	NCBI36
NG_009168.1:g.36282C>G , LRG_700:g.36282C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.297C>G MANE Select	ENSP00000322280.1:p.Val99=
ENST00000468836.2:c.445C>G	ENSP00000419892.2:p.Gln149Glu
ENST00000644099.1:c.289C>G	ENSP00000494762.1:n.289C>G
ENST00000295911.6:c.69C>G	ENSP00000295911.2:p.Val23=
ENST00000327047.5:c.297C>G	ENSP00000322280.1:p.Val99=
ENST00000328863.8:c.297C>G	ENSP00000329158.4:p.Val99=
ENST00000468836.1:c.69C>G	ENSP00000419892.1:p.Val23=
ENST00000472224.1:n.303C>G
ENST00000485607.1:c.-40C>G	ENSP00000419244.1:n.-40C>G
ENST00000565169.1:c.26C>G
ENST00000569170.5:c.26C>G
NM_001195794.1:c.297C>G , LRG_700t1:c.297C>G	NP_001182723.1:p.Val99=
NM_001256819.1:c.469C>G	NP_001243748.1:p.Gln157Glu
NM_052995.2:c.69C>G , LRG_700t2:c.69C>G	NP_443721.1:p.Val23=
NM_174878.2:c.297C>G	NP_777367.1:p.Val99=
NR_046380.2:n.739C>G
XR_924167.1:n.609C>G
NM_001256819.2:c.469C>G	NP_001243748.1:p.Gln157Glu
NM_174878.3:c.297C>G MANE Select	NP_777367.1:p.Val99=
NR_046380.3:n.467C>G