Canonical Allele Identifier: CA355011940

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150972552-C-G
• MyVariant Identifiers: chr3:g.150690339C>G (hg19) ; chr3:g.150972552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972552C>G , CM000665.2:g.150972552C>G	GRCh38
NC_000003.11:g.150690339C>G , CM000665.1:g.150690339C>G	GRCh37
NC_000003.10:g.152173029C>G	NCBI36
NG_009168.1:g.5448G>C , LRG_700:g.5448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.157G>C MANE Select	ENSP00000322280.1:p.Glu53Gln
ENST00000468836.2:c.133G>C	ENSP00000419892.2:p.Glu45Gln
ENST00000327047.5:c.157G>C	ENSP00000322280.1:p.Glu53Gln
ENST00000328863.8:c.157G>C	ENSP00000329158.4:p.Glu53Gln
ENST00000468836.1:c.-244G>C	ENSP00000419892.1:n.-244G>C
ENST00000472224.1:n.163G>C
NM_001195794.1:c.157G>C , LRG_700t1:c.157G>C	NP_001182723.1:p.Glu53Gln
NM_001256819.1:c.157G>C	NP_001243748.1:p.Glu53Gln
NM_174878.2:c.157G>C	NP_777367.1:p.Glu53Gln
NR_046380.2:n.448G>C
XR_924167.1:n.469G>C
NM_001256819.2:c.157G>C	NP_001243748.1:p.Glu53Gln
NM_174878.3:c.157G>C MANE Select	NP_777367.1:p.Glu53Gln
NR_046380.3:n.176G>C