Canonical Allele Identifier: CA10641003

Gene: CTC1

Linked Data

• ClinVar Variation Id: 326009
• ClinVar RCV Id: RCV000359904
• dbSNP Id: rs3027252
• gnomAD v3: 17-8226336-C-G
• gnomAD v4: 17-8226336-C-G
• MyVariant Identifiers: chr17:g.8129654C>G (hg19) ; chr17:g.8226336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8226336C>G , CM000679.2:g.8226336C>G	GRCh38
NC_000017.10:g.8129654C>G , CM000679.1:g.8129654C>G	GRCh37
NC_000017.9:g.8070379C>G	NCBI36
NG_032148.1:g.26760G>C
NG_032148.2:g.26760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651323.1:c.*1844G>C MANE Select	ENSP00000498499.1:n.*1844G>C
ENST00000315684.12:c.*1844G>C	ENSP00000313759.8:n.*1844G>C
NM_025099.5:c.*1844G>C	NP_079375.3:n.*1844G>C
NR_046431.1:n.5387G>C
XM_006721577.2:c.*1844G>C	XP_006721640.1:n.*1844G>C
XM_006721578.2:c.*1844G>C	XP_006721641.1:n.*1844G>C
XM_011524010.1:c.*1844G>C	XP_011522312.1:n.*1844G>C
XM_011524011.1:c.*1844G>C	XP_011522313.1:n.*1844G>C
XR_429823.2:n.5375G>C
XR_429824.2:n.5476G>C
NM_025099.6:c.*1844G>C MANE Select	NP_079375.3:n.*1844G>C
XM_006721577.3:c.*1844G>C	XP_006721640.1:n.*1844G>C
XM_006721578.3:c.*1844G>C	XP_006721641.1:n.*1844G>C
XM_011524010.2:c.*1844G>C	XP_011522312.1:n.*1844G>C
XM_011524011.2:c.*1844G>C	XP_011522313.1:n.*1844G>C
XR_001752639.1:n.5349G>C
XR_001752640.1:n.5497G>C
XR_001752641.1:n.5432G>C
XR_001752642.1:n.5282G>C
XR_002958073.1:n.5788G>C
XR_429823.3:n.5375G>C
XR_429824.3:n.5476G>C
NR_046431.2:n.5348G>C