Canonical Allele Identifier: CA8291860

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322842
• ClinVar RCV Id: RCV000284539 ; RCV000374508 ; RCV001274180 ; RCV002522942
• dbSNP Id: rs142641674
• ExAC: 17:3561312 G / A
• gnomAD v2: 17-3561312-G-A
• gnomAD v3: 17-3658018-G-A
• gnomAD v4: 17-3658018-G-A
• MyVariant Identifiers: chr17:g.3561312G>A (hg19) ; chr17:g.3658018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3658018G>A , CM000679.2:g.3658018G>A	GRCh38
NC_000017.10:g.3561312G>A , CM000679.1:g.3561312G>A	GRCh37
NC_000017.9:g.3508061G>A	NCBI36
NG_012489.1:g.26551G>A
NG_012489.2:g.26551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.695G>A MANE Select	ENSP00000046640.4:p.Arg232His
ENST00000381870.8:c.695G>A	ENSP00000371294.3:p.Arg232His
ENST00000488623.6:c.-59G>A	ENSP00000501016.1:n.-59G>A
ENST00000574776.6:c.254G>A	ENSP00000461118.2:p.Arg85His
ENST00000673669.1:c.254G>A	ENSP00000501123.1:p.Arg85His
ENST00000673965.1:c.695G>A	ENSP00000500995.1:p.Arg232His
ENST00000046640.7:c.695G>A	ENSP00000046640.3:p.Arg232His
ENST00000381870.7:c.695G>A	ENSP00000371294.3:p.Arg232His
NM_001031681.2:c.695G>A	NP_001026851.2:p.Arg232His
NM_004937.2:c.695G>A	NP_004928.2:p.Arg232His
XM_005256485.1:c.695G>A	XP_005256542.1:p.Arg232His
XM_006721463.1:c.695G>A	XP_006721526.1:p.Arg232His
XM_006721464.1:c.254G>A	XP_006721527.1:p.Arg85His
XM_011523691.1:c.695G>A	XP_011521993.1:p.Arg232His
XM_011523692.1:c.254G>A	XP_011521994.1:p.Arg85His
XR_934003.1:n.1288G>A
XM_005256485.3:c.695G>A	XP_005256542.1:p.Arg232His
XM_006721463.3:c.695G>A	XP_006721526.1:p.Arg232His
XM_006721464.2:c.254G>A	XP_006721527.1:p.Arg85His
XM_011523691.2:c.695G>A	XP_011521993.1:p.Arg232His
XM_011523692.2:c.254G>A	XP_011521994.1:p.Arg85His
XM_017024254.1:c.254G>A	XP_016879743.1:p.Arg85His
XM_017024255.1:c.254G>A	XP_016879744.1:p.Arg85His
XM_017024256.1:c.254G>A	XP_016879745.1:p.Arg85His
XM_017024257.1:c.254G>A	XP_016879746.1:p.Arg85His
XM_017024258.1:c.254G>A	XP_016879747.1:p.Arg85His
NM_001374492.1:c.695G>A	NP_001361421.1:p.Arg232His
NM_001374493.1:c.254G>A	NP_001361422.1:p.Arg85His
NM_001374494.1:c.254G>A	NP_001361423.1:p.Arg85His
NM_001374495.1:c.254G>A	NP_001361424.1:p.Arg85His
NM_001374496.1:c.254G>A	NP_001361425.1:p.Arg85His
NM_004937.3:c.695G>A MANE Select	NP_004928.2:p.Arg232His
NM_001031681.3:c.695G>A	NP_001026851.2:p.Arg232His