Canonical Allele Identifier: CA354955352

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941599-A-T
• MyVariant Identifiers: chr3:g.150659386A>T (hg19) ; chr3:g.150941599A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941599A>T , CM000665.2:g.150941599A>T	GRCh38
NC_000003.11:g.150659386A>T , CM000665.1:g.150659386A>T	GRCh37
NC_000003.10:g.152142076A>T	NCBI36
NG_009168.1:g.36401T>A , LRG_700:g.36401T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.416T>A MANE Select	ENSP00000322280.1:p.Leu139His
ENST00000468836.2:c.564T>A	ENSP00000419892.2:n.564T>A
ENST00000644099.1:c.408T>A	ENSP00000494762.1:n.408T>A
ENST00000295911.6:c.188T>A	ENSP00000295911.2:p.Leu63His
ENST00000327047.5:c.416T>A	ENSP00000322280.1:p.Leu139His
ENST00000328863.8:c.416T>A	ENSP00000329158.4:p.Leu139His
ENST00000468836.1:c.188T>A	ENSP00000419892.1:p.Leu63His
ENST00000472224.1:n.422T>A
ENST00000485607.1:c.80T>A	ENSP00000419244.1:p.Leu27His
ENST00000562308.5:c.87T>A
ENST00000565169.1:c.145T>A
ENST00000569170.5:c.145T>A
NM_001195794.1:c.416T>A , LRG_700t1:c.416T>A	NP_001182723.1:p.Leu139His
NM_001256819.1:c.*30T>A	NP_001243748.1:n.*30T>A
NM_052995.2:c.188T>A , LRG_700t2:c.188T>A	NP_443721.1:p.Leu63His
NM_174878.2:c.416T>A	NP_777367.1:p.Leu139His
NR_046380.2:n.858T>A
XR_924167.1:n.728T>A
NM_001256819.2:c.*30T>A	NP_001243748.1:n.*30T>A
NM_174878.3:c.416T>A MANE Select	NP_777367.1:p.Leu139His
NR_046380.3:n.586T>A