Canonical Allele Identifier: CA2666067

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 1109283
• ClinVar RCV Id: RCV001435110
• dbSNP Id: rs749786896
• ExAC: 3:150659388 G / A
• gnomAD v2: 3-150659388-G-A
• gnomAD v3: 3-150941601-G-A
• gnomAD v4: 3-150941601-G-A
• MyVariant Identifiers: chr3:g.150659388G>A (hg19) ; chr3:g.150941601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941601G>A , CM000665.2:g.150941601G>A	GRCh38
NC_000003.11:g.150659388G>A , CM000665.1:g.150659388G>A	GRCh37
NC_000003.10:g.152142078G>A	NCBI36
NG_009168.1:g.36399C>T , LRG_700:g.36399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.414C>T MANE Select	ENSP00000322280.1:p.Tyr138=
ENST00000468836.2:c.562C>T	ENSP00000419892.2:n.562C>T
ENST00000644099.1:c.406C>T	ENSP00000494762.1:n.406C>T
ENST00000295911.6:c.186C>T	ENSP00000295911.2:p.Tyr62=
ENST00000327047.5:c.414C>T	ENSP00000322280.1:p.Tyr138=
ENST00000328863.8:c.414C>T	ENSP00000329158.4:p.Tyr138=
ENST00000468836.1:c.186C>T	ENSP00000419892.1:p.Tyr62=
ENST00000472224.1:n.420C>T
ENST00000485607.1:c.78C>T	ENSP00000419244.1:p.Tyr26=
ENST00000562308.5:c.85C>T
ENST00000565169.1:c.143C>T
ENST00000569170.5:c.143C>T
NM_001195794.1:c.414C>T , LRG_700t1:c.414C>T	NP_001182723.1:p.Tyr138=
NM_001256819.1:c.*28C>T	NP_001243748.1:n.*28C>T
NM_052995.2:c.186C>T , LRG_700t2:c.186C>T	NP_443721.1:p.Tyr62=
NM_174878.2:c.414C>T	NP_777367.1:p.Tyr138=
NR_046380.2:n.856C>T
XR_924167.1:n.726C>T
NM_001256819.2:c.*28C>T	NP_001243748.1:n.*28C>T
NM_174878.3:c.414C>T MANE Select	NP_777367.1:p.Tyr138=
NR_046380.3:n.584C>T