Canonical Allele Identifier: CA436265296

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1643920
• ClinVar RCV Id: RCV002138593
• dbSNP Id: rs2107951071
• MyVariant Identifiers: chr3:g.150659445G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941658G>A , CM000665.2:g.150941658G>A	GRCh38
NC_000003.11:g.150659445G>A , CM000665.1:g.150659445G>A	GRCh37
NC_000003.10:g.152142135G>A	NCBI36
NG_009168.1:g.36342C>T , LRG_700:g.36342C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.357C>T MANE Select	ENSP00000322280.1:p.Phe119=
ENST00000468836.2:c.505C>T	ENSP00000419892.2:p.His169Tyr
ENST00000644099.1:c.349C>T	ENSP00000494762.1:n.349C>T
ENST00000295911.6:c.129C>T	ENSP00000295911.2:p.Phe43=
ENST00000327047.5:c.357C>T	ENSP00000322280.1:p.Phe119=
ENST00000328863.8:c.357C>T	ENSP00000329158.4:p.Phe119=
ENST00000468836.1:c.129C>T	ENSP00000419892.1:p.Phe43=
ENST00000472224.1:n.363C>T
ENST00000485607.1:c.21C>T	ENSP00000419244.1:p.Phe7=
ENST00000562308.5:c.28C>T
ENST00000565169.1:c.86C>T
ENST00000569170.5:c.86C>T
NM_001195794.1:c.357C>T , LRG_700t1:c.357C>T	NP_001182723.1:p.Phe119=
NM_001256819.1:c.529C>T	NP_001243748.1:p.His177Tyr
NM_052995.2:c.129C>T , LRG_700t2:c.129C>T	NP_443721.1:p.Phe43=
NM_174878.2:c.357C>T	NP_777367.1:p.Phe119=
NR_046380.2:n.799C>T
XR_924167.1:n.669C>T
NM_001256819.2:c.529C>T	NP_001243748.1:p.His177Tyr
NM_174878.3:c.357C>T MANE Select	NP_777367.1:p.Phe119=
NR_046380.3:n.527C>T