Canonical Allele Identifier: CA10650517
Gene: CTC1 HGNC NCBI
ClinVar RCV:
RCV000332835
ClinVar Variation:
326051
COSMIC:
COSN6662049
dbSNP:
3027247
gnomAD v2:
17:8130867 A / C
gnomAD v3:
17:8227549 A / C
gnomAD v4:
chr17-8227549-A-C
Joint Max Group AF 0.40595192 (AMR)
Genomes Max Group AF 0.40618991 (AMR)
Exomes Max Group AF 0.20294882 (NFE)
MyVariant.info:
GRCh38 chr17:g.8227549A>C
GRCh37 chr17:g.8130867A>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8227549A>C , CM000679.2:g.8227549A>C GRCh38
NC_000017.10:g.8130867A>C , CM000679.1:g.8130867A>C GRCh37
NC_000017.9:g.8071592A>C NCBI36
NG_032148.1:g.25547T>G
NG_032148.2:g.25547T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699849.1:c.*631T>G ENSP00000514647.1:n.*631T>G
ENST00000699850.1:n.4217T>G
ENST00000699851.1:n.5171T>G
ENST00000699852.1:c.*2798T>G ENSP00000514648.1:n.*2798T>G
ENST00000699853.1:c.*870T>G ENSP00000514649.1:n.*870T>G
ENST00000449476.7:c.*1019T>G ENSP00000396018.2:n.*1019T>G
ENST00000643543.1:c.*2992T>G ENSP00000494323.1:n.*2992T>G
ENST00000651323.1:c.*631T>G MANE Select ENSP00000498499.1:n.*631T>G
ENST00000315684.12:c.*631T>G ENSP00000313759.8:n.*631T>G
ENST00000449476.6:c.*1019T>G ENSP00000396018.2:n.*1019T>G
NM_025099.5:c.*631T>G NP_079375.3:n.*631T>G
NR_046431.1:n.4174T>G
XM_006721577.2:c.*631T>G XP_006721640.1:n.*631T>G
XM_006721578.2:c.*631T>G XP_006721641.1:n.*631T>G
XM_011524010.1:c.*631T>G XP_011522312.1:n.*631T>G
XM_011524011.1:c.*631T>G XP_011522313.1:n.*631T>G
XR_429823.2:n.4162T>G
XR_429824.2:n.4263T>G
NM_025099.6:c.*631T>G MANE Select NP_079375.3:n.*631T>G
XM_006721577.3:c.*631T>G XP_006721640.1:n.*631T>G
XM_006721578.3:c.*631T>G XP_006721641.1:n.*631T>G
XM_011524010.2:c.*631T>G XP_011522312.1:n.*631T>G
XM_011524011.2:c.*631T>G XP_011522313.1:n.*631T>G
XR_001752639.1:n.4136T>G
XR_001752640.1:n.4284T>G
XR_001752641.1:n.4219T>G
XR_001752642.1:n.4069T>G
XR_002958073.1:n.4575T>G
XR_429823.3:n.4162T>G
XR_429824.3:n.4263T>G
NR_046431.2:n.4135T>G
Search 100 bp 5'
Search 100 bp 3'