Canonical Allele Identifier: CA354956215

Gene: CLRN1

Linked Data

• gnomAD v4: 3-150941761-A-C
• MyVariant Identifiers: chr3:g.150659548A>C (hg19) ; chr3:g.150941761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941761A>C , CM000665.2:g.150941761A>C	GRCh38
NC_000003.11:g.150659548A>C , CM000665.1:g.150659548A>C	GRCh37
NC_000003.10:g.152142238A>C	NCBI36
NG_009168.1:g.36239T>G , LRG_700:g.36239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.254T>G MANE Select	ENSP00000322280.1:p.Phe85Cys
ENST00000468836.2:c.402T>G	ENSP00000419892.2:p.Ser134Arg
ENST00000644099.1:c.246T>G	ENSP00000494762.1:n.246T>G
ENST00000295911.6:c.26T>G	ENSP00000295911.2:p.Val9Gly
ENST00000327047.5:c.254T>G	ENSP00000322280.1:p.Phe85Cys
ENST00000328863.8:c.254T>G	ENSP00000329158.4:p.Phe85Cys
ENST00000468836.1:c.26T>G	ENSP00000419892.1:p.Val9Gly
ENST00000472224.1:n.260T>G
ENST00000485607.1:c.-83T>G	ENSP00000419244.1:n.-83T>G
NM_001195794.1:c.254T>G , LRG_700t1:c.254T>G	NP_001182723.1:p.Phe85Cys
NM_001256819.1:c.426T>G	NP_001243748.1:p.Ser142Arg
NM_052995.2:c.26T>G , LRG_700t2:c.26T>G	NP_443721.1:p.Val9Gly
NM_174878.2:c.254T>G	NP_777367.1:p.Phe85Cys
NR_046380.2:n.696T>G
XR_924167.1:n.566T>G
NM_001256819.2:c.426T>G	NP_001243748.1:p.Ser142Arg
NM_174878.3:c.254T>G MANE Select	NP_777367.1:p.Phe85Cys
NR_046380.3:n.424T>G