Canonical Allele Identifier: CA8371986
Gene: CTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 529185
dbSNP Id: rs200609323
gnomAD v2: 17-8133880-C-A
gnomAD v3: 17-8230562-C-A
gnomAD v4: 17-8230562-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8230562C>A , CM000679.2:g.8230562C>A GRCh38
NC_000017.10:g.8133880C>A , CM000679.1:g.8133880C>A GRCh37
NC_000017.9:g.8074605C>A NCBI36
NG_032148.1:g.22534G>T
NG_032148.2:g.22534G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2758+1G>T ENSP00000462607.2:n.2758+1G>T
ENST00000581729.2:c.2758+1G>T ENSP00000462720.2:n.2758+1G>T
ENST00000581967.2:n.3210+1G>T
ENST00000583254.2:n.4431+1G>T
ENST00000699849.1:c.1861+1G>T ENSP00000514647.1:n.1861+1G>T
ENST00000699850.1:n.2021+1G>T
ENST00000699851.1:n.2780+1G>T
ENST00000699852.1:c.*1434+1G>T ENSP00000514648.1:n.*1434+1G>T
ENST00000699853.1:c.2758+1G>T ENSP00000514649.1:n.2758+1G>T
ENST00000699854.1:n.2551+1G>T
ENST00000699855.1:n.3210+1G>T
ENST00000699856.1:c.2758+1G>T ENSP00000514650.1:n.2758+1G>T
ENST00000699857.1:n.2766+1G>T
ENST00000699858.1:c.*1371+1G>T ENSP00000514651.1:n.*1371+1G>T
ENST00000699859.1:c.2629+1G>T ENSP00000514652.1:n.2629+1G>T
ENST00000699860.1:n.670+1G>T
ENST00000699861.1:n.2780+1G>T
ENST00000699862.1:n.3718+1G>T
ENST00000449476.7:c.2653+1G>T ENSP00000396018.2:n.2653+1G>T
ENST00000581671.2:n.2747+1G>T
ENST00000643543.1:c.*1465+1G>T ENSP00000494323.1:n.*1465+1G>T
ENST00000651323.1:c.2758+1G>T MANE Select ENSP00000498499.1:n.2758+1G>T
ENST00000315684.12:c.2758+1G>T ENSP00000313759.8:n.2758+1G>T
ENST00000449476.6:c.2653+1G>T ENSP00000396018.2:n.2653+1G>T
ENST00000578240.1:n.986+1G>T
ENST00000578441.5:n.259+1G>T
ENST00000578537.1:c.460+1G>T
ENST00000584439.1:n.371+1G>T
NM_025099.5:c.2758+1G>T NP_079375.3:n.2758+1G>T
NR_046431.1:n.2712+1G>T
XM_006721577.2:c.2629+1G>T XP_006721640.1:n.2629+1G>T
XM_006721578.2:c.2758+1G>T XP_006721641.1:n.2758+1G>T
XM_006721579.2:c.2758+1G>T XP_006721642.1:n.2758+1G>T
XM_011524010.1:c.2653+1G>T XP_011522312.1:n.2653+1G>T
XM_011524011.1:c.1861+1G>T XP_011522313.1:n.1861+1G>T
XR_429823.2:n.2801+1G>T
XR_429824.2:n.2801+1G>T
XR_429825.1:n.2607+1G>T
NM_025099.6:c.2758+1G>T MANE Select NP_079375.3:n.2758+1G>T
XM_006721577.3:c.2629+1G>T XP_006721640.1:n.2629+1G>T
XM_006721578.3:c.2758+1G>T XP_006721641.1:n.2758+1G>T
XM_011524010.2:c.2653+1G>T XP_011522312.1:n.2653+1G>T
XM_011524011.2:c.1861+1G>T XP_011522313.1:n.1861+1G>T
XR_001752639.1:n.2672+1G>T
XR_001752640.1:n.2801+1G>T
XR_001752641.1:n.2801+1G>T
XR_001752642.1:n.2607+1G>T
XR_001752643.1:n.3231+1G>T
XR_002958073.1:n.2607+1G>T
XR_429823.3:n.2801+1G>T
XR_429824.3:n.2801+1G>T
NR_046431.2:n.2673+1G>T