Canonical Allele Identifier: CA7630486

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1657298
• ClinVar RCV Id: RCV002164348
• dbSNP Id: rs772090270
• ExAC: 15:68500700 G / A
• gnomAD v2: 15-68500700-G-A
• gnomAD v4: 15-68208362-G-A
• MyVariant Identifiers: chr15:g.68500700G>A (hg19) ; chr15:g.68208362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208362G>A , CM000677.2:g.68208362G>A	GRCh38
NC_000015.9:g.68500700G>A , CM000677.1:g.68500700G>A	GRCh37
NC_000015.8:g.66287754G>A	NCBI36
NG_008764.2:g.53850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.714C>T MANE Select	ENSP00000249806.5:p.Phe238=
ENST00000562767.2:c.84-10734C>T	ENSP00000456336.1:n.84-10734C>T
ENST00000563917.2:n.556C>T
ENST00000565471.6:c.255C>T	ENSP00000457384.1:p.Phe85=
ENST00000635747.1:c.*617C>T	ENSP00000490627.1:n.*617C>T
ENST00000636212.1:c.*384C>T	ENSP00000489851.1:n.*384C>T
ENST00000636674.1:n.1816C>T
ENST00000636964.1:n.2242C>T
ENST00000637054.1:c.198+10174C>T	ENSP00000490807.1:n.198+10174C>T
ENST00000637329.1:c.683C>T
ENST00000637450.1:c.*368C>T	ENSP00000490204.1:n.*368C>T
ENST00000637494.1:c.426C>T	ENSP00000490057.1:p.Phe142=
ENST00000637667.1:c.615C>T	ENSP00000489843.1:p.Phe205=
ENST00000637823.1:c.539C>T
ENST00000637888.1:c.198+10174C>T	ENSP00000490546.1:n.198+10174C>T
ENST00000638076.1:c.*317C>T	ENSP00000490373.1:n.*317C>T
ENST00000638144.1:n.357C>T
ENST00000646164.1:c.39-8681C>T
ENST00000249806.9:c.714C>T	ENSP00000249806.5:p.Phe238=
ENST00000538696.5:c.810C>T	ENSP00000445770.1:p.Phe270=
ENST00000562767.1:c.84-10734C>T	ENSP00000456336.1:n.84-10734C>T
ENST00000564752.1:c.*98C>T	ENSP00000457822.1:n.*98C>T
ENST00000565471.5:c.255C>T	ENSP00000457384.1:p.Phe85=
ENST00000566347.5:c.525C>T	ENSP00000457783.1:p.Phe175=
ENST00000567060.5:c.*112C>T	ENSP00000454818.1:n.*112C>T
NM_017882.2:c.714C>T	NP_060352.1:p.Phe238=
NM_017882.3:c.714C>T MANE Select	NP_060352.1:p.Phe238=