Canonical Allele Identifier: CA85947806

Gene: CLRN1

Linked Data

• dbSNP Id: rs940484731
• gnomAD v2: 3-150690188-C-T
• gnomAD v3: 3-150972401-C-T
• gnomAD v4: 3-150972401-C-T
• MyVariant Identifiers: chr3:g.150690188C>T (hg19) ; chr3:g.150972401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972401C>T , CM000665.2:g.150972401C>T	GRCh38
NC_000003.11:g.150690188C>T , CM000665.1:g.150690188C>T	GRCh37
NC_000003.10:g.152172878C>T	NCBI36
NG_009168.1:g.5599G>A , LRG_700:g.5599G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.253+55G>A MANE Select	ENSP00000322280.1:n.253+55G>A
ENST00000468836.2:c.229+55G>A	ENSP00000419892.2:n.229+55G>A
ENST00000644099.1:c.94+55G>A	ENSP00000494762.1:n.94+55G>A
ENST00000645441.1:c.95+55G>A
ENST00000327047.5:c.253+55G>A	ENSP00000322280.1:n.253+55G>A
ENST00000328863.8:c.253+55G>A	ENSP00000329158.4:n.253+55G>A
ENST00000468836.1:c.-148+55G>A	ENSP00000419892.1:n.-148+55G>A
ENST00000472224.1:n.259+55G>A
NM_001195794.1:c.253+55G>A , LRG_700t1:c.253+55G>A	NP_001182723.1:n.253+55G>A
NM_001256819.1:c.253+55G>A	NP_001243748.1:n.253+55G>A
NM_174878.2:c.253+55G>A	NP_777367.1:n.253+55G>A
NR_046380.2:n.544+55G>A
XR_924167.1:n.565+55G>A
NM_001256819.2:c.253+55G>A	NP_001243748.1:n.253+55G>A
NM_174878.3:c.253+55G>A MANE Select	NP_777367.1:n.253+55G>A
NR_046380.3:n.272+55G>A