Canonical Allele Identifier: CA354955968

Gene: CLRN1

Linked Data

• dbSNP Id: rs1713856247
• gnomAD v3: 3-150941714-C-G
• gnomAD v4: 3-150941714-C-G
• MyVariant Identifiers: chr3:g.150659501C>G (hg19) ; chr3:g.150941714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941714C>G , CM000665.2:g.150941714C>G	GRCh38
NC_000003.11:g.150659501C>G , CM000665.1:g.150659501C>G	GRCh37
NC_000003.10:g.152142191C>G	NCBI36
NG_009168.1:g.36286G>C , LRG_700:g.36286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.301G>C MANE Select	ENSP00000322280.1:p.Val101Leu
ENST00000468836.2:c.449G>C	ENSP00000419892.2:p.Cys150Ser
ENST00000644099.1:c.293G>C	ENSP00000494762.1:n.293G>C
ENST00000295911.6:c.73G>C	ENSP00000295911.2:p.Val25Leu
ENST00000327047.5:c.301G>C	ENSP00000322280.1:p.Val101Leu
ENST00000328863.8:c.301G>C	ENSP00000329158.4:p.Val101Leu
ENST00000468836.1:c.73G>C	ENSP00000419892.1:p.Val25Leu
ENST00000472224.1:n.307G>C
ENST00000485607.1:c.-36G>C	ENSP00000419244.1:n.-36G>C
ENST00000565169.1:c.30G>C
ENST00000569170.5:c.30G>C
NM_001195794.1:c.301G>C , LRG_700t1:c.301G>C	NP_001182723.1:p.Val101Leu
NM_001256819.1:c.473G>C	NP_001243748.1:p.Cys158Ser
NM_052995.2:c.73G>C , LRG_700t2:c.73G>C	NP_443721.1:p.Val25Leu
NM_174878.2:c.301G>C	NP_777367.1:p.Val101Leu
NR_046380.2:n.743G>C
XR_924167.1:n.613G>C
NM_001256819.2:c.473G>C	NP_001243748.1:p.Cys158Ser
NM_174878.3:c.301G>C MANE Select	NP_777367.1:p.Val101Leu
NR_046380.3:n.471G>C