Canonical Allele Identifier: CA287533711

Gene: CTC1

Linked Data

• ClinVar Variation Id: 1043791
• ClinVar RCV Id: RCV001347951
• dbSNP Id: rs537646611
• gnomAD v4: 17-8232078-T-C
• MyVariant Identifiers: chr17:g.8135396T>C (hg19) ; chr17:g.8232078T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232078T>C , CM000679.2:g.8232078T>C	GRCh38
NC_000017.10:g.8135396T>C , CM000679.1:g.8135396T>C	GRCh37
NC_000017.9:g.8076121T>C	NCBI36
NG_032148.1:g.21018A>G
NG_032148.2:g.21018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2210A>G	ENSP00000462607.2:p.His737Arg
ENST00000581729.2:c.2210A>G	ENSP00000462720.2:p.His737Arg
ENST00000581967.2:n.2662A>G
ENST00000583254.2:n.2916A>G
ENST00000699849.1:c.1313A>G	ENSP00000514647.1:p.His438Arg
ENST00000699850.1:n.1473A>G
ENST00000699851.1:n.2232A>G
ENST00000699852.1:c.*886A>G	ENSP00000514648.1:n.*886A>G
ENST00000699853.1:c.2210A>G	ENSP00000514649.1:p.His737Arg
ENST00000699854.1:n.2003A>G
ENST00000699855.1:n.2662A>G
ENST00000699856.1:c.2210A>G	ENSP00000514650.1:p.His737Arg
ENST00000699857.1:n.2218A>G
ENST00000699858.1:c.*823A>G	ENSP00000514651.1:n.*823A>G
ENST00000699859.1:c.2081A>G	ENSP00000514652.1:p.His694Arg
ENST00000699860.1:n.316A>G
ENST00000699861.1:n.2232A>G
ENST00000699862.1:n.3170A>G
ENST00000449476.7:c.2105A>G	ENSP00000396018.2:p.His702Arg
ENST00000581671.2:n.2199A>G
ENST00000643543.1:c.*917A>G	ENSP00000494323.1:n.*917A>G
ENST00000651323.1:c.2210A>G MANE Select	ENSP00000498499.1:p.His737Arg
ENST00000315684.12:c.2210A>G	ENSP00000313759.8:p.His737Arg
ENST00000449476.6:c.2105A>G	ENSP00000396018.2:p.His702Arg
ENST00000578240.1:n.438A>G
ENST00000578537.1:c.106A>G
NM_025099.5:c.2210A>G	NP_079375.3:p.His737Arg
NR_046431.1:n.2164A>G
XM_006721577.2:c.2081A>G	XP_006721640.1:p.His694Arg
XM_006721578.2:c.2210A>G	XP_006721641.1:p.His737Arg
XM_006721579.2:c.2210A>G	XP_006721642.1:p.His737Arg
XM_011524010.1:c.2105A>G	XP_011522312.1:p.His702Arg
XM_011524011.1:c.1313A>G	XP_011522313.1:p.His438Arg
XR_429823.2:n.2253A>G
XR_429824.2:n.2253A>G
XR_429825.1:n.2253A>G
NM_025099.6:c.2210A>G MANE Select	NP_079375.3:p.His737Arg
XM_006721577.3:c.2081A>G	XP_006721640.1:p.His694Arg
XM_006721578.3:c.2210A>G	XP_006721641.1:p.His737Arg
XM_011524010.2:c.2105A>G	XP_011522312.1:p.His702Arg
XM_011524011.2:c.1313A>G	XP_011522313.1:p.His438Arg
XR_001752639.1:n.2124A>G
XR_001752640.1:n.2253A>G
XR_001752641.1:n.2253A>G
XR_001752642.1:n.2253A>G
XR_001752643.1:n.2683A>G
XR_002958073.1:n.2253A>G
XR_429823.3:n.2253A>G
XR_429824.3:n.2253A>G
NR_046431.2:n.2125A>G