Canonical Allele Identifier: CA395343889

Gene: CLN3

Linked Data

• ClinVar Variation Id: 660322
• ClinVar RCV Id: RCV000817490
• dbSNP Id: rs386833699
• MyVariant Identifiers: chr16:g.28493426C>A (hg19) ; chr16:g.28482105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482105C>A , CM000678.2:g.28482105C>A	GRCh38
NC_000016.9:g.28493426C>A , CM000678.1:g.28493426C>A	GRCh37
NC_000016.8:g.28400927C>A	NCBI36
NG_008654.2:g.15198G>T , LRG_689:g.15198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.984G>T	ENSP00000329171.9:p.Gln328His
ENST00000355477.10:c.912G>T	ENSP00000347660.7:p.Gln304His
ENST00000357857.14:c.894G>T	ENSP00000350523.9:p.Gln298His
ENST00000359984.12:c.1056G>T	ENSP00000353073.9:p.Gln352His
ENST00000360019.8:c.984G>T	ENSP00000353116.3:p.Gln328His
ENST00000395653.9:c.597G>T	ENSP00000379014.5:p.Gln199His
ENST00000561689.6:n.1469G>T
ENST00000564091.6:c.396G>T	ENSP00000454466.2:p.Gln132His
ENST00000565316.6:c.1005G>T	ENSP00000456117.1:p.Gln335His
ENST00000566824.6:n.1116G>T
ENST00000567963.6:c.894G>T	ENSP00000455387.2:p.Gln298His
ENST00000568076.6:n.1485G>T
ENST00000568422.6:c.*293G>T	ENSP00000455549.2:n.*293G>T
ENST00000568452.6:n.1287G>T
ENST00000569430.7:c.1056G>T	ENSP00000454229.1:p.Gln352His
ENST00000628023.3:c.*352G>T	ENSP00000486178.1:n.*352G>T
ENST00000635861.1:c.*708G>T	ENSP00000490034.1:n.*708G>T
ENST00000635887.1:c.1056G>T	ENSP00000490709.1:p.Gln352His
ENST00000635958.1:n.1341G>T
ENST00000635973.1:c.807G>T	ENSP00000490363.1:p.Gln269His
ENST00000636017.1:c.*580G>T	ENSP00000490538.1:n.*580G>T
ENST00000636078.1:n.1178G>T
ENST00000636147.2:c.1056G>T MANE Select	ENSP00000490105.1:p.Gln352His
ENST00000636172.1:c.*580G>T	ENSP00000490505.1:n.*580G>T
ENST00000636228.1:c.750G>T	ENSP00000489627.1:p.Gln250His
ENST00000636351.1:n.950G>T
ENST00000636503.1:c.1056G>T	ENSP00000489824.1:p.Gln352His
ENST00000636685.1:n.737G>T
ENST00000636766.1:c.1056G>T	ENSP00000489841.1:p.Gln352His
ENST00000636839.1:n.1430G>T
ENST00000636853.1:n.1971G>T
ENST00000636866.1:c.1056G>T	ENSP00000490880.1:p.Gln352His
ENST00000636907.1:n.1207G>T
ENST00000636977.1:n.2426G>T
ENST00000637050.1:n.1445G>T
ENST00000637100.1:c.1005G>T	ENSP00000490394.1:p.Gln335His
ENST00000637107.1:c.*580G>T	ENSP00000490248.1:n.*580G>T
ENST00000637184.1:c.1056G>T	ENSP00000489952.1:p.Gln352His
ENST00000637299.1:c.*865G>T	ENSP00000489823.1:n.*865G>T
ENST00000637376.1:c.1056G>T	ENSP00000490758.1:p.Gln352His
ENST00000637378.1:c.228G>T	ENSP00000490831.1:p.Gln76His
ENST00000637578.1:c.*580G>T	ENSP00000490206.1:n.*580G>T
ENST00000637699.1:c.967G>T	ENSP00000490049.1:n.967G>T
ENST00000637745.1:c.395G>T
ENST00000637871.1:c.*754G>T	ENSP00000490670.1:n.*754G>T
ENST00000638036.1:c.218G>T
ENST00000333496.13:c.984G>T	ENSP00000329171.9:p.Gln328His
ENST00000355477.9:c.*293G>T	ENSP00000347660.6:n.*293G>T
ENST00000357806.11:c.759G>T	ENSP00000350457.7:p.Gln253His
ENST00000357857.13:c.894G>T	ENSP00000350523.9:p.Gln298His
ENST00000359984.11:c.750G>T	ENSP00000353073.8:p.Gln250His
ENST00000360019.6:c.1056G>T	ENSP00000353116.2:p.Gln352His
ENST00000395653.8:c.756G>T	ENSP00000379014.4:p.Gln252His
ENST00000561689.5:n.1025G>T
ENST00000563874.5:n.2584G>T
ENST00000564091.5:c.145G>T
ENST00000565140.5:c.839G>T	ENSP00000455342.1:n.839G>T
ENST00000565316.5:c.1005G>T	ENSP00000456117.1:p.Gln335His
ENST00000565354.5:n.369G>T
ENST00000566057.5:c.670G>T	ENSP00000456693.1:n.670G>T
ENST00000567963.5:c.906+372G>T	ENSP00000455387.1:n.906+372G>T
ENST00000568076.5:n.967G>T
ENST00000568224.4:c.822G>T	ENSP00000454253.1:p.Gln274His
ENST00000568422.5:c.*293G>T	ENSP00000455549.1:n.*293G>T
ENST00000568452.5:n.1184G>T
ENST00000569030.5:c.726G>T	ENSP00000454680.1:p.Gln242His
ENST00000569430.5:c.1056G>T	ENSP00000454229.1:p.Gln352His
ENST00000628023.2:c.*352G>T	ENSP00000486178.1:n.*352G>T
ENST00000631023.2:c.906+372G>T	ENSP00000486616.1:n.906+372G>T
NM_000086.2:c.1056G>T , LRG_689t1:c.1056G>T	NP_000077.1:p.Gln352His
NM_001042432.1:c.1056G>T , LRG_689t2:c.1056G>T	NP_001035897.1:p.Gln352His
NM_001286104.1:c.984G>T	NP_001273033.1:p.Gln328His
NM_001286105.1:c.756G>T	NP_001273034.1:p.Gln252His
NM_001286109.1:c.822G>T	NP_001273038.1:p.Gln274His
NM_001286110.1:c.894G>T	NP_001273039.1:p.Gln298His
NM_001042432.2:c.1056G>T MANE Select	NP_001035897.1:p.Gln352His
NM_001286104.2:c.984G>T	NP_001273033.1:p.Gln328His
NM_001286105.2:c.756G>T	NP_001273034.1:p.Gln252His
NM_001286109.2:c.822G>T	NP_001273038.1:p.Gln274His
NM_001286110.2:c.894G>T	NP_001273039.1:p.Gln298His