Canonical Allele Identifier: CA10639458

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322819
• ClinVar RCV Id: RCV000340201 ; RCV000391183
• dbSNP Id: rs886052860
• gnomAD v3: 17-3636632-T-C
• gnomAD v4: 17-3636632-T-C
• MyVariant Identifiers: chr17:g.3539926T>C (hg19) ; chr17:g.3636632T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636632T>C , CM000679.2:g.3636632T>C	GRCh38
NC_000017.10:g.3539926T>C , CM000679.1:g.3539926T>C	GRCh37
NC_000017.9:g.3486675T>C	NCBI36
NG_012489.1:g.5165T>C
NG_052852.1:g.4691A>G
NG_012489.2:g.5165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-306T>C	ENSP00000371294.3:n.-306T>C
ENST00000673965.1:c.-301T>C	ENSP00000500995.1:n.-301T>C
ENST00000046640.7:c.-429T>C	ENSP00000046640.3:n.-429T>C
ENST00000381870.7:c.-306T>C	ENSP00000371294.3:n.-306T>C
NM_001031681.2:c.-306T>C	NP_001026851.2:n.-306T>C
NM_004937.2:c.-429T>C	NP_004928.2:n.-429T>C
XM_005256485.1:c.-429T>C	XP_005256542.1:n.-429T>C
XM_006721463.1:c.-301T>C	XP_006721526.1:n.-301T>C
XM_006721464.1:c.-785T>C	XP_006721527.1:n.-785T>C
XM_011523692.1:c.-790T>C	XP_011521994.1:n.-790T>C
XR_934003.1:n.165T>C
XM_005256485.3:c.-429T>C	XP_005256542.1:n.-429T>C
XM_006721463.3:c.-301T>C	XP_006721526.1:n.-301T>C
XM_006721464.2:c.-785T>C	XP_006721527.1:n.-785T>C
XM_011523692.2:c.-790T>C	XP_011521994.1:n.-790T>C
XM_017024254.1:c.-706T>C	XP_016879743.1:n.-706T>C
XM_017024255.1:c.-785T>C	XP_016879744.1:n.-785T>C
XM_017024256.1:c.-790T>C	XP_016879745.1:n.-790T>C
XM_017024257.1:c.-706T>C	XP_016879746.1:n.-706T>C
XM_017024258.1:c.-705T>C	XP_016879747.1:n.-705T>C
NM_001031681.3:c.-306T>C	NP_001026851.2:n.-306T>C