Canonical Allele Identifier: CA2668198810

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972413-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972413T>A , CM000665.2:g.150972413T>A	GRCh38
NC_000003.11:g.150690200T>A , CM000665.1:g.150690200T>A	GRCh37
NC_000003.10:g.152172890T>A	NCBI36
NG_009168.1:g.5587A>T , LRG_700:g.5587A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.253+43A>T MANE Select	ENSP00000322280.1:n.253+43A>T
ENST00000468836.2:c.229+43A>T	ENSP00000419892.2:n.229+43A>T
ENST00000644099.1:c.94+43A>T	ENSP00000494762.1:n.94+43A>T
ENST00000645441.1:c.95+43A>T
ENST00000327047.5:c.253+43A>T	ENSP00000322280.1:n.253+43A>T
ENST00000328863.8:c.253+43A>T	ENSP00000329158.4:n.253+43A>T
ENST00000468836.1:c.-148+43A>T	ENSP00000419892.1:n.-148+43A>T
ENST00000472224.1:n.259+43A>T
NM_001195794.1:c.253+43A>T , LRG_700t1:c.253+43A>T	NP_001182723.1:n.253+43A>T
NM_001256819.1:c.253+43A>T	NP_001243748.1:n.253+43A>T
NM_174878.2:c.253+43A>T	NP_777367.1:n.253+43A>T
NR_046380.2:n.544+43A>T
XR_924167.1:n.565+43A>T
NM_001256819.2:c.253+43A>T	NP_001243748.1:n.253+43A>T
NM_174878.3:c.253+43A>T MANE Select	NP_777367.1:n.253+43A>T
NR_046380.3:n.272+43A>T