Canonical Allele Identifier: CA436265201

Gene: CLRN1

Linked Data

• dbSNP Id: rs1184644144
• gnomAD v2: 3-150659370-T-C
• gnomAD v3: 3-150941583-T-C
• gnomAD v4: 3-150941583-T-C
• MyVariant Identifiers: chr3:g.150659370T>C (hg19) ; chr3:g.150941583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941583T>C , CM000665.2:g.150941583T>C	GRCh38
NC_000003.11:g.150659370T>C , CM000665.1:g.150659370T>C	GRCh37
NC_000003.10:g.152142060T>C	NCBI36
NG_009168.1:g.36417A>G , LRG_700:g.36417A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.432A>G MANE Select	ENSP00000322280.1:p.Ser144=
ENST00000468836.2:c.580A>G	ENSP00000419892.2:n.580A>G
ENST00000644099.1:c.424A>G	ENSP00000494762.1:n.424A>G
ENST00000295911.6:c.204A>G	ENSP00000295911.2:p.Ser68=
ENST00000327047.5:c.432A>G	ENSP00000322280.1:p.Ser144=
ENST00000328863.8:c.432A>G	ENSP00000329158.4:p.Ser144=
ENST00000468836.1:c.204A>G	ENSP00000419892.1:p.Ser68=
ENST00000472224.1:n.438A>G
ENST00000485607.1:c.96A>G	ENSP00000419244.1:p.Ser32=
ENST00000562308.5:c.103A>G
ENST00000565169.1:c.161A>G
ENST00000569170.5:c.161A>G
NM_001195794.1:c.432A>G , LRG_700t1:c.432A>G	NP_001182723.1:p.Ser144=
NM_001256819.1:c.*46A>G	NP_001243748.1:n.*46A>G
NM_052995.2:c.204A>G , LRG_700t2:c.204A>G	NP_443721.1:p.Ser68=
NM_174878.2:c.432A>G	NP_777367.1:p.Ser144=
NR_046380.2:n.874A>G
XR_924167.1:n.744A>G
NM_001256819.2:c.*46A>G	NP_001243748.1:n.*46A>G
NM_174878.3:c.432A>G MANE Select	NP_777367.1:p.Ser144=
NR_046380.3:n.602A>G