Canonical Allele Identifier: CA286999315

Gene: CTNS

Linked Data

• dbSNP Id: rs965934495
• gnomAD v3: 17-3636706-C-G
• gnomAD v4: 17-3636706-C-G
• MyVariant Identifiers: chr17:g.3540000C>G (hg19) ; chr17:g.3636706C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636706C>G , CM000679.2:g.3636706C>G	GRCh38
NC_000017.10:g.3540000C>G , CM000679.1:g.3540000C>G	GRCh37
NC_000017.9:g.3486749C>G	NCBI36
NG_012489.1:g.5239C>G
NG_052852.1:g.4617G>C
NG_012489.2:g.5239C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-232C>G	ENSP00000371294.3:n.-232C>G
ENST00000673965.1:c.-230+3C>G	ENSP00000500995.1:n.-230+3C>G
ENST00000046640.7:c.-355C>G	ENSP00000046640.3:n.-355C>G
ENST00000381870.7:c.-232C>G	ENSP00000371294.3:n.-232C>G
NM_001031681.2:c.-232C>G	NP_001026851.2:n.-232C>G
NM_004937.2:c.-355C>G	NP_004928.2:n.-355C>G
XM_005256485.1:c.-355C>G	XP_005256542.1:n.-355C>G
XM_006721463.1:c.-230+3C>G	XP_006721526.1:n.-230+3C>G
XM_006721464.1:c.-711C>G	XP_006721527.1:n.-711C>G
XM_011523692.1:c.-716C>G	XP_011521994.1:n.-716C>G
XR_934003.1:n.239C>G
XM_005256485.3:c.-355C>G	XP_005256542.1:n.-355C>G
XM_006721463.3:c.-230+3C>G	XP_006721526.1:n.-230+3C>G
XM_006721464.2:c.-711C>G	XP_006721527.1:n.-711C>G
XM_011523692.2:c.-716C>G	XP_011521994.1:n.-716C>G
XM_017024254.1:c.-632C>G	XP_016879743.1:n.-632C>G
XM_017024255.1:c.-711C>G	XP_016879744.1:n.-711C>G
XM_017024256.1:c.-716C>G	XP_016879745.1:n.-716C>G
XM_017024257.1:c.-632C>G	XP_016879746.1:n.-632C>G
XM_017024258.1:c.-631C>G	XP_016879747.1:n.-631C>G
NM_001031681.3:c.-232C>G	NP_001026851.2:n.-232C>G