Canonical Allele Identifier: CA7980837

Gene: CLN3

Linked Data

• ClinVar Variation Id: 527729
• ClinVar RCV Id: RCV000632678 ; RCV001119056
• dbSNP Id: rs764881080
• ExAC: 16:28495369 G / A
• gnomAD v2: 16-28495369-G-A
• gnomAD v3: 16-28484048-G-A
• gnomAD v4: 16-28484048-G-A
• COSMIC: COSM4258157 ; COSM4258158
• MyVariant Identifiers: chr16:g.28495369G>A (hg19) ; chr16:g.28484048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484048G>A , CM000678.2:g.28484048G>A	GRCh38
NC_000016.9:g.28495369G>A , CM000678.1:g.28495369G>A	GRCh37
NC_000016.8:g.28402870G>A	NCBI36
NG_008654.2:g.13255C>T , LRG_689:g.13255C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.676C>T	ENSP00000329171.9:p.Arg226Trp
ENST00000355477.10:c.604C>T	ENSP00000347660.7:p.Arg202Trp
ENST00000357857.14:c.586C>T	ENSP00000350523.9:p.Arg196Trp
ENST00000359984.12:c.748C>T	ENSP00000353073.9:p.Arg250Trp
ENST00000360019.8:c.676C>T	ENSP00000353116.3:p.Arg226Trp
ENST00000395653.9:c.289C>T	ENSP00000379014.5:p.Arg97Trp
ENST00000561689.6:n.1033C>T
ENST00000564091.6:c.88C>T	ENSP00000454466.2:p.Arg30Trp
ENST00000565316.6:c.748C>T	ENSP00000456117.1:p.Arg250Trp
ENST00000565778.6:c.379C>T	ENSP00000458015.1:p.Arg127Trp
ENST00000566083.6:n.1206C>T
ENST00000566824.6:n.728C>T
ENST00000567963.6:c.586C>T	ENSP00000455387.2:p.Arg196Trp
ENST00000568076.6:n.875C>T
ENST00000568422.6:c.531C>T	ENSP00000455549.2:p.Pro177=
ENST00000568452.6:n.851C>T
ENST00000568472.6:n.624C>T
ENST00000568497.6:c.-222C>T	ENSP00000456414.2:n.-222C>T
ENST00000568558.6:c.451C>T	ENSP00000455603.2:p.Arg151Trp
ENST00000569430.7:c.748C>T	ENSP00000454229.1:p.Arg250Trp
ENST00000628023.3:c.*44C>T	ENSP00000486178.1:n.*44C>T
ENST00000635861.1:c.*272C>T	ENSP00000490034.1:n.*272C>T
ENST00000635887.1:c.748C>T	ENSP00000490709.1:p.Arg250Trp
ENST00000635958.1:n.859C>T
ENST00000635973.1:c.499C>T	ENSP00000490363.1:p.Arg167Trp
ENST00000636017.1:c.*272C>T	ENSP00000490538.1:n.*272C>T
ENST00000636078.1:n.790C>T
ENST00000636147.2:c.748C>T MANE Select	ENSP00000490105.1:p.Arg250Trp
ENST00000636172.1:c.*272C>T	ENSP00000490505.1:n.*272C>T
ENST00000636228.1:c.442C>T	ENSP00000489627.1:p.Arg148Trp
ENST00000636351.1:n.468C>T
ENST00000636503.1:c.748C>T	ENSP00000489824.1:p.Arg250Trp
ENST00000636685.1:n.255C>T
ENST00000636766.1:c.748C>T	ENSP00000489841.1:p.Arg250Trp
ENST00000636839.1:n.900C>T
ENST00000636853.1:n.1663C>T
ENST00000636866.1:c.748C>T	ENSP00000490880.1:p.Arg250Trp
ENST00000636907.1:n.899C>T
ENST00000636977.1:n.1816C>T
ENST00000637050.1:n.835C>T
ENST00000637100.1:c.748C>T	ENSP00000490394.1:p.Arg250Trp
ENST00000637107.1:c.*272C>T	ENSP00000490248.1:n.*272C>T
ENST00000637184.1:c.748C>T	ENSP00000489952.1:p.Arg250Trp
ENST00000637299.1:c.*557C>T	ENSP00000489823.1:n.*557C>T
ENST00000637376.1:c.748C>T	ENSP00000490758.1:p.Arg250Trp
ENST00000637578.1:c.*272C>T	ENSP00000490206.1:n.*272C>T
ENST00000637699.1:c.531C>T	ENSP00000490049.1:p.Pro177=
ENST00000637745.1:c.87C>T
ENST00000637871.1:c.*272C>T	ENSP00000490670.1:n.*272C>T
ENST00000333496.13:c.676C>T	ENSP00000329171.9:p.Arg226Trp
ENST00000355477.9:c.531C>T	ENSP00000347660.6:p.Pro177=
ENST00000357806.11:c.451C>T	ENSP00000350457.7:p.Arg151Trp
ENST00000357857.13:c.586C>T	ENSP00000350523.9:p.Arg196Trp
ENST00000359984.11:c.442C>T	ENSP00000353073.8:p.Arg148Trp
ENST00000360019.6:c.748C>T	ENSP00000353116.2:p.Arg250Trp
ENST00000395653.8:c.448C>T	ENSP00000379014.4:p.Arg150Trp
ENST00000561689.5:n.589C>T
ENST00000563874.5:n.2102C>T
ENST00000564574.5:n.796C>T
ENST00000565047.1:n.342C>T
ENST00000565140.5:c.531C>T	ENSP00000455342.1:p.Pro177=
ENST00000565316.5:c.748C>T	ENSP00000456117.1:p.Arg250Trp
ENST00000565688.5:c.499C>T	ENSP00000456122.1:p.Arg167Trp
ENST00000565778.5:c.379C>T	ENSP00000458015.1:p.Arg127Trp
ENST00000566057.5:c.362C>T	ENSP00000456693.1:n.362C>T
ENST00000566083.5:n.979C>T
ENST00000566824.5:n.797C>T
ENST00000567495.5:c.531C>T	ENSP00000456013.1:p.Pro177=
ENST00000567963.5:c.748C>T	ENSP00000455387.1:p.Arg250Trp
ENST00000568076.5:n.531C>T
ENST00000568224.4:c.514C>T	ENSP00000454253.1:p.Arg172Trp
ENST00000568422.5:c.384C>T	ENSP00000455549.1:p.Pro128=
ENST00000568452.5:n.748C>T
ENST00000568472.5:n.228C>T
ENST00000568497.5:c.*44C>T	ENSP00000456414.1:n.*44C>T
ENST00000568558.5:c.289C>T	ENSP00000455603.1:p.Arg97Trp
ENST00000569030.5:c.461-1376C>T	ENSP00000454680.1:n.461-1376C>T
ENST00000569430.5:c.748C>T	ENSP00000454229.1:p.Arg250Trp
ENST00000628023.2:c.*44C>T	ENSP00000486178.1:n.*44C>T
ENST00000631023.2:c.748C>T	ENSP00000486616.1:p.Arg250Trp
NM_000086.2:c.748C>T , LRG_689t1:c.748C>T	NP_000077.1:p.Arg250Trp
NM_001042432.1:c.748C>T , LRG_689t2:c.748C>T	NP_001035897.1:p.Arg250Trp
NM_001286104.1:c.676C>T	NP_001273033.1:p.Arg226Trp
NM_001286105.1:c.448C>T	NP_001273034.1:p.Arg150Trp
NM_001286109.1:c.514C>T	NP_001273038.1:p.Arg172Trp
NM_001286110.1:c.586C>T	NP_001273039.1:p.Arg196Trp
NM_001042432.2:c.748C>T MANE Select	NP_001035897.1:p.Arg250Trp
NM_001286104.2:c.676C>T	NP_001273033.1:p.Arg226Trp
NM_001286105.2:c.448C>T	NP_001273034.1:p.Arg150Trp
NM_001286109.2:c.514C>T	NP_001273038.1:p.Arg172Trp
NM_001286110.2:c.586C>T	NP_001273039.1:p.Arg196Trp