Canonical Allele Identifier: CA286999223

Gene: CTNS

Linked Data

• ClinVar Variation Id: 891259
• ClinVar RCV Id: RCV001126431 ; RCV001126432
• dbSNP Id: rs1012479993
• gnomAD v2: 17-3539904-A-G
• gnomAD v3: 17-3636610-A-G
• gnomAD v4: 17-3636610-A-G
• MyVariant Identifiers: chr17:g.3539904A>G (hg19) ; chr17:g.3636610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636610A>G , CM000679.2:g.3636610A>G	GRCh38
NC_000017.10:g.3539904A>G , CM000679.1:g.3539904A>G	GRCh37
NC_000017.9:g.3486653A>G	NCBI36
NG_012489.1:g.5143A>G
NG_052852.1:g.4713T>C
NG_012489.2:g.5143A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-328A>G	ENSP00000371294.3:n.-328A>G
ENST00000673965.1:c.-323A>G	ENSP00000500995.1:n.-323A>G
ENST00000046640.7:c.-451A>G	ENSP00000046640.3:n.-451A>G
ENST00000381870.7:c.-328A>G	ENSP00000371294.3:n.-328A>G
NM_001031681.2:c.-328A>G	NP_001026851.2:n.-328A>G
NM_004937.2:c.-451A>G	NP_004928.2:n.-451A>G
XM_005256485.1:c.-451A>G	XP_005256542.1:n.-451A>G
XM_006721463.1:c.-323A>G	XP_006721526.1:n.-323A>G
XM_006721464.1:c.-807A>G	XP_006721527.1:n.-807A>G
XM_011523692.1:c.-812A>G	XP_011521994.1:n.-812A>G
XR_934003.1:n.143A>G
XM_005256485.3:c.-451A>G	XP_005256542.1:n.-451A>G
XM_006721463.3:c.-323A>G	XP_006721526.1:n.-323A>G
XM_006721464.2:c.-807A>G	XP_006721527.1:n.-807A>G
XM_011523692.2:c.-812A>G	XP_011521994.1:n.-812A>G
XM_017024254.1:c.-728A>G	XP_016879743.1:n.-728A>G
XM_017024255.1:c.-807A>G	XP_016879744.1:n.-807A>G
XM_017024256.1:c.-812A>G	XP_016879745.1:n.-812A>G
XM_017024257.1:c.-728A>G	XP_016879746.1:n.-728A>G
XM_017024258.1:c.-727A>G	XP_016879747.1:n.-727A>G
NM_001031681.3:c.-328A>G	NP_001026851.2:n.-328A>G