Canonical Allele Identifier: CA10651350

Gene: CTC1

Linked Data

• ClinVar Variation Id: 326033
• ClinVar RCV Id: RCV000260419
• dbSNP Id: rs886053602
• gnomAD v3: 17-8226976-A-G
• gnomAD v4: 17-8226976-A-G
• MyVariant Identifiers: chr17:g.8130294A>G (hg19) ; chr17:g.8226976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8226976A>G , CM000679.2:g.8226976A>G	GRCh38
NC_000017.10:g.8130294A>G , CM000679.1:g.8130294A>G	GRCh37
NC_000017.9:g.8071019A>G	NCBI36
NG_032148.1:g.26120T>C
NG_032148.2:g.26120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699849.1:c.*1204T>C	ENSP00000514647.1:n.*1204T>C
ENST00000699850.1:n.4790T>C
ENST00000699851.1:n.5744T>C
ENST00000699852.1:c.*3371T>C	ENSP00000514648.1:n.*3371T>C
ENST00000699853.1:c.*1443T>C	ENSP00000514649.1:n.*1443T>C
ENST00000449476.7:c.*1592T>C	ENSP00000396018.2:n.*1592T>C
ENST00000643543.1:c.*3565T>C	ENSP00000494323.1:n.*3565T>C
ENST00000651323.1:c.*1204T>C MANE Select	ENSP00000498499.1:n.*1204T>C
ENST00000315684.12:c.*1204T>C	ENSP00000313759.8:n.*1204T>C
ENST00000449476.6:c.*1592T>C	ENSP00000396018.2:n.*1592T>C
NM_025099.5:c.*1204T>C	NP_079375.3:n.*1204T>C
NR_046431.1:n.4747T>C
XM_006721577.2:c.*1204T>C	XP_006721640.1:n.*1204T>C
XM_006721578.2:c.*1204T>C	XP_006721641.1:n.*1204T>C
XM_011524010.1:c.*1204T>C	XP_011522312.1:n.*1204T>C
XM_011524011.1:c.*1204T>C	XP_011522313.1:n.*1204T>C
XR_429823.2:n.4735T>C
XR_429824.2:n.4836T>C
NM_025099.6:c.*1204T>C MANE Select	NP_079375.3:n.*1204T>C
XM_006721577.3:c.*1204T>C	XP_006721640.1:n.*1204T>C
XM_006721578.3:c.*1204T>C	XP_006721641.1:n.*1204T>C
XM_011524010.2:c.*1204T>C	XP_011522312.1:n.*1204T>C
XM_011524011.2:c.*1204T>C	XP_011522313.1:n.*1204T>C
XR_001752639.1:n.4709T>C
XR_001752640.1:n.4857T>C
XR_001752641.1:n.4792T>C
XR_001752642.1:n.4642T>C
XR_002958073.1:n.5148T>C
XR_429823.3:n.4735T>C
XR_429824.3:n.4836T>C
NR_046431.2:n.4708T>C