Canonical Allele Identifier: CA7981024

Gene: CLN3

Linked Data

• ClinVar Variation Id: 457951
• ClinVar RCV Id: RCV000536369 ; RCV001116111 ; RCV001579990 ; RCV001702672
• dbSNP Id: rs201225986
• ExAC: 16:28500611 A / G
• gnomAD v2: 16-28500611-A-G
• gnomAD v3: 16-28489290-A-G
• gnomAD v4: 16-28489290-A-G
• MyVariant Identifiers: chr16:g.28500611A>G (hg19) ; chr16:g.28489290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28489290A>G , CM000678.2:g.28489290A>G	GRCh38
NC_000016.9:g.28500611A>G , CM000678.1:g.28500611A>G	GRCh37
NC_000016.8:g.28408112A>G	NCBI36
NG_008654.2:g.8013T>C , LRG_689:g.8013T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.222T>C	ENSP00000329171.9:p.His74=
ENST00000355477.10:c.222T>C	ENSP00000347660.7:p.His74=
ENST00000357857.14:c.60T>C	ENSP00000350523.9:p.His20=
ENST00000359984.12:c.222T>C	ENSP00000353073.9:p.His74=
ENST00000360019.8:c.222T>C	ENSP00000353116.3:p.His74=
ENST00000395653.9:c.60T>C	ENSP00000379014.5:p.His20=
ENST00000561505.2:c.60T>C	ENSP00000457615.2:p.His20=
ENST00000561689.6:n.507T>C
ENST00000565316.6:c.222T>C	ENSP00000456117.1:p.His74=
ENST00000565778.6:c.222T>C	ENSP00000458015.1:p.His74=
ENST00000566083.6:n.680T>C
ENST00000566824.6:n.202T>C
ENST00000567495.6:c.222T>C	ENSP00000456013.2:p.His74=
ENST00000567963.6:c.60T>C	ENSP00000455387.2:p.His20=
ENST00000568076.6:n.349T>C
ENST00000568422.6:c.222T>C	ENSP00000455549.2:p.His74=
ENST00000568443.2:c.375T>C	ENSP00000454899.2:p.His125=
ENST00000568452.6:n.325T>C
ENST00000568472.6:n.395T>C
ENST00000568497.6:c.-293T>C	ENSP00000456414.2:n.-293T>C
ENST00000568558.6:c.222T>C	ENSP00000455603.2:p.His74=
ENST00000569430.7:c.222T>C	ENSP00000454229.1:p.His74=
ENST00000628023.3:c.222T>C	ENSP00000486178.1:p.His74=
ENST00000635861.1:c.60T>C	ENSP00000490034.1:p.His20=
ENST00000635887.1:c.222T>C	ENSP00000490709.1:p.His74=
ENST00000635958.1:n.333T>C
ENST00000635973.1:c.126-1749T>C	ENSP00000490363.1:n.126-1749T>C
ENST00000636017.1:c.222T>C	ENSP00000490538.1:p.His74=
ENST00000636078.1:n.264T>C
ENST00000636147.2:c.222T>C MANE Select	ENSP00000490105.1:p.His74=
ENST00000636172.1:c.222T>C	ENSP00000490505.1:p.His74=
ENST00000636228.1:c.60T>C	ENSP00000489627.1:p.His20=
ENST00000636503.1:c.222T>C	ENSP00000489824.1:p.His74=
ENST00000636766.1:c.222T>C	ENSP00000489841.1:p.His74=
ENST00000636839.1:n.374T>C
ENST00000636853.1:n.298T>C
ENST00000636866.1:c.222T>C	ENSP00000490880.1:p.His74=
ENST00000636977.1:n.321T>C
ENST00000637100.1:c.222T>C	ENSP00000490394.1:p.His74=
ENST00000637107.1:c.375T>C	ENSP00000490248.1:p.His125=
ENST00000637184.1:c.222T>C	ENSP00000489952.1:p.His74=
ENST00000637299.1:c.*31T>C	ENSP00000489823.1:n.*31T>C
ENST00000637376.1:c.222T>C	ENSP00000490758.1:p.His74=
ENST00000637578.1:c.60T>C	ENSP00000490206.1:p.His20=
ENST00000637699.1:c.222T>C	ENSP00000490049.1:p.His74=
ENST00000637871.1:c.222T>C	ENSP00000490670.1:p.His74=
ENST00000637985.1:c.*161T>C	ENSP00000490932.1:n.*161T>C
ENST00000333496.13:c.222T>C	ENSP00000329171.9:p.His74=
ENST00000355477.9:c.222T>C	ENSP00000347660.6:p.His74=
ENST00000357806.11:c.222T>C	ENSP00000350457.7:p.His74=
ENST00000357857.13:c.60T>C	ENSP00000350523.9:p.His20=
ENST00000359984.11:c.60T>C	ENSP00000353073.8:p.His20=
ENST00000360019.6:c.222T>C	ENSP00000353116.2:p.His74=
ENST00000395653.8:c.2T>C	ENSP00000379014.4:p.Met1Thr
ENST00000561505.1:c.2T>C	ENSP00000457615.1:p.Met1Thr
ENST00000561689.5:n.143T>C
ENST00000563874.5:n.1576T>C
ENST00000564574.5:n.270T>C
ENST00000565047.1:n.114-628T>C
ENST00000565140.5:c.222T>C	ENSP00000455342.1:p.His74=
ENST00000565316.5:c.222T>C	ENSP00000456117.1:p.His74=
ENST00000565688.5:c.126-1749T>C	ENSP00000456122.1:n.126-1749T>C
ENST00000565778.5:c.222T>C	ENSP00000458015.1:p.His74=
ENST00000566057.5:c.126-1549T>C	ENSP00000456693.1:n.126-1549T>C
ENST00000566083.5:n.453T>C
ENST00000566824.5:n.351T>C
ENST00000567495.5:c.222T>C	ENSP00000456013.1:p.His74=
ENST00000567804.1:c.222T>C	ENSP00000455365.1:p.His74=
ENST00000567963.5:c.222T>C	ENSP00000455387.1:p.His74=
ENST00000568076.5:n.222T>C
ENST00000568224.4:c.60T>C	ENSP00000454253.1:p.His20=
ENST00000568422.5:c.2T>C	ENSP00000455549.1:p.Met1Thr
ENST00000568443.1:c.375T>C	ENSP00000454899.1:p.His125=
ENST00000568452.5:n.222T>C
ENST00000568472.5:n.157T>C
ENST00000568497.5:c.222T>C	ENSP00000456414.1:p.His74=
ENST00000568558.5:c.60T>C	ENSP00000455603.1:p.His20=
ENST00000569030.5:c.222T>C	ENSP00000454680.1:p.His74=
ENST00000569430.5:c.222T>C	ENSP00000454229.1:p.His74=
ENST00000628023.2:c.222T>C	ENSP00000486178.1:p.His74=
ENST00000631023.2:c.222T>C	ENSP00000486616.1:p.His74=
NM_000086.2:c.222T>C , LRG_689t1:c.222T>C	NP_000077.1:p.His74=
NM_001042432.1:c.222T>C , LRG_689t2:c.222T>C	NP_001035897.1:p.His74=
NM_001286104.1:c.222T>C	NP_001273033.1:p.His74=
NM_001286105.1:c.2T>C	NP_001273034.1:p.Met1Thr
NM_001286109.1:c.60T>C	NP_001273038.1:p.His20=
NM_001286110.1:c.60T>C	NP_001273039.1:p.His20=
NM_001042432.2:c.222T>C MANE Select	NP_001035897.1:p.His74=
NM_001286104.2:c.222T>C	NP_001273033.1:p.His74=
NM_001286105.2:c.2T>C	NP_001273034.1:p.Met1Thr
NM_001286109.2:c.60T>C	NP_001273038.1:p.His20=
NM_001286110.2:c.60T>C	NP_001273039.1:p.His20=