Canonical Allele Identifier: CA8372143
Gene: CTC1 HGNC NCBI

Linked Data

dbSNP Id: rs1555533182
gnomAD v2: 17-8135429-T-C
gnomAD v4: 17-8232111-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8232111T>C , CM000679.2:g.8232111T>C GRCh38
NC_000017.10:g.8135429T>C , CM000679.1:g.8135429T>C GRCh37
NC_000017.9:g.8076154T>C NCBI36
NG_032148.1:g.20985A>G
NG_032148.2:g.20985A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2177A>G ENSP00000462607.2:p.His726Arg
ENST00000581729.2:c.2177A>G ENSP00000462720.2:p.His726Arg
ENST00000581967.2:n.2629A>G
ENST00000583254.2:n.2883A>G
ENST00000699849.1:c.1280A>G ENSP00000514647.1:p.His427Arg
ENST00000699850.1:n.1440A>G
ENST00000699851.1:n.2199A>G
ENST00000699852.1:c.*853A>G ENSP00000514648.1:n.*853A>G
ENST00000699853.1:c.2177A>G ENSP00000514649.1:p.His726Arg
ENST00000699854.1:n.1970A>G
ENST00000699855.1:n.2629A>G
ENST00000699856.1:c.2177A>G ENSP00000514650.1:p.His726Arg
ENST00000699857.1:n.2185A>G
ENST00000699858.1:c.*790A>G ENSP00000514651.1:n.*790A>G
ENST00000699859.1:c.2048A>G ENSP00000514652.1:p.His683Arg
ENST00000699860.1:n.283A>G
ENST00000699861.1:n.2199A>G
ENST00000699862.1:n.3137A>G
ENST00000449476.7:c.2072A>G ENSP00000396018.2:p.His691Arg
ENST00000581671.2:n.2166A>G
ENST00000643543.1:c.*884A>G ENSP00000494323.1:n.*884A>G
ENST00000651323.1:c.2177A>G MANE Select ENSP00000498499.1:p.His726Arg
ENST00000315684.12:c.2177A>G ENSP00000313759.8:p.His726Arg
ENST00000449476.6:c.2072A>G ENSP00000396018.2:p.His691Arg
ENST00000578240.1:n.405A>G
ENST00000578537.1:c.73A>G
NM_025099.5:c.2177A>G NP_079375.3:p.His726Arg
NR_046431.1:n.2131A>G
XM_006721577.2:c.2048A>G XP_006721640.1:p.His683Arg
XM_006721578.2:c.2177A>G XP_006721641.1:p.His726Arg
XM_006721579.2:c.2177A>G XP_006721642.1:p.His726Arg
XM_011524010.1:c.2072A>G XP_011522312.1:p.His691Arg
XM_011524011.1:c.1280A>G XP_011522313.1:p.His427Arg
XR_429823.2:n.2220A>G
XR_429824.2:n.2220A>G
XR_429825.1:n.2220A>G
NM_025099.6:c.2177A>G MANE Select NP_079375.3:p.His726Arg
XM_006721577.3:c.2048A>G XP_006721640.1:p.His683Arg
XM_006721578.3:c.2177A>G XP_006721641.1:p.His726Arg
XM_011524010.2:c.2072A>G XP_011522312.1:p.His691Arg
XM_011524011.2:c.1280A>G XP_011522313.1:p.His427Arg
XR_001752639.1:n.2091A>G
XR_001752640.1:n.2220A>G
XR_001752641.1:n.2220A>G
XR_001752642.1:n.2220A>G
XR_001752643.1:n.2650A>G
XR_002958073.1:n.2220A>G
XR_429823.3:n.2220A>G
XR_429824.3:n.2220A>G
NR_046431.2:n.2092A>G