Canonical Allele Identifier: CA354956193

Gene: CLRN1

Linked Data

• dbSNP Id: rs2107951480
• MyVariant Identifiers: chr3:g.150659545A>C (hg19) ; chr3:g.150941758A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941758A>C , CM000665.2:g.150941758A>C	GRCh38
NC_000003.11:g.150659545A>C , CM000665.1:g.150659545A>C	GRCh37
NC_000003.10:g.152142235A>C	NCBI36
NG_009168.1:g.36242T>G , LRG_700:g.36242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.257T>G MANE Select	ENSP00000322280.1:p.Phe86Cys
ENST00000468836.2:c.405T>G	ENSP00000419892.2:p.Phe135Leu
ENST00000644099.1:c.249T>G	ENSP00000494762.1:n.249T>G
ENST00000295911.6:c.29T>G	ENSP00000295911.2:p.Phe10Cys
ENST00000327047.5:c.257T>G	ENSP00000322280.1:p.Phe86Cys
ENST00000328863.8:c.257T>G	ENSP00000329158.4:p.Phe86Cys
ENST00000468836.1:c.29T>G	ENSP00000419892.1:p.Phe10Cys
ENST00000472224.1:n.263T>G
ENST00000485607.1:c.-80T>G	ENSP00000419244.1:n.-80T>G
NM_001195794.1:c.257T>G , LRG_700t1:c.257T>G	NP_001182723.1:p.Phe86Cys
NM_001256819.1:c.429T>G	NP_001243748.1:p.Phe143Leu
NM_052995.2:c.29T>G , LRG_700t2:c.29T>G	NP_443721.1:p.Phe10Cys
NM_174878.2:c.257T>G	NP_777367.1:p.Phe86Cys
NR_046380.2:n.699T>G
XR_924167.1:n.569T>G
NM_001256819.2:c.429T>G	NP_001243748.1:p.Phe143Leu
NM_174878.3:c.257T>G MANE Select	NP_777367.1:p.Phe86Cys
NR_046380.3:n.427T>G