Canonical Allele Identifier: CA355011741

Gene: CLRN1

Linked Data

• dbSNP Id: rs1476228884
• gnomAD v3: 3-150972459-A-G
• gnomAD v4: 3-150972459-A-G
• MyVariant Identifiers: chr3:g.150690246A>G (hg19) ; chr3:g.150972459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972459A>G , CM000665.2:g.150972459A>G	GRCh38
NC_000003.11:g.150690246A>G , CM000665.1:g.150690246A>G	GRCh37
NC_000003.10:g.152172936A>G	NCBI36
NG_009168.1:g.5541T>C , LRG_700:g.5541T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.250T>C MANE Select	ENSP00000322280.1:p.Ser84Pro
ENST00000468836.2:c.226T>C	ENSP00000419892.2:p.Ser76Pro
ENST00000644099.1:c.91T>C	ENSP00000494762.1:p.Ser31Pro
ENST00000645441.1:c.92T>C
ENST00000327047.5:c.250T>C	ENSP00000322280.1:p.Ser84Pro
ENST00000328863.8:c.250T>C	ENSP00000329158.4:p.Ser84Pro
ENST00000468836.1:c.-151T>C	ENSP00000419892.1:n.-151T>C
ENST00000472224.1:n.256T>C
NM_001195794.1:c.250T>C , LRG_700t1:c.250T>C	NP_001182723.1:p.Ser84Pro
NM_001256819.1:c.250T>C	NP_001243748.1:p.Ser84Pro
NM_174878.2:c.250T>C	NP_777367.1:p.Ser84Pro
NR_046380.2:n.541T>C
XR_924167.1:n.562T>C
NM_001256819.2:c.250T>C	NP_001243748.1:p.Ser84Pro
NM_174878.3:c.250T>C MANE Select	NP_777367.1:p.Ser84Pro
NR_046380.3:n.269T>C