Canonical Allele Identifier: CA117663

Gene: CST3

Linked Data

• ClinVar Variation Id: 5635
• ClinVar RCV Id: RCV000005989 ; RCV002054421 ; RCV002490325 ; RCV001777132
• dbSNP Id: rs1064039
• ExAC: 20:23618427 C / T
• gnomAD v2: 20-23618427-C-T
• gnomAD v3: 20-23637790-C-T
• gnomAD v4: 20-23637790-C-T
• MyVariant Identifiers: chr20:g.23618427C>T (hg19) ; chr20:g.23637790C>T (hg38)
• PubMed: PMID:11815350 ; PMID:25893795

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637790C>T , CM000682.2:g.23637790C>T	GRCh38
NC_000020.10:g.23618427C>T , CM000682.1:g.23618427C>T	GRCh37
NC_000020.9:g.23566427C>T	NCBI36
NG_012887.2:g.5148G>A
NG_012887.3:g.5148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.73G>A MANE Select	ENSP00000366124.3:p.Ala25Thr
ENST00000376925.7:c.73G>A	ENSP00000366124.3:p.Ala25Thr
ENST00000398409.1:c.73G>A	ENSP00000381446.1:p.Ala25Thr
ENST00000398411.5:c.73G>A	ENSP00000381448.1:p.Ala25Thr
NM_000099.3:c.73G>A	NP_000090.1:p.Ala25Thr
NM_001288614.1:c.73G>A	NP_001275543.1:p.Ala25Thr
NM_000099.4:c.73G>A MANE Select	NP_000090.1:p.Ala25Thr
NM_001288614.2:c.73G>A	NP_001275543.1:p.Ala25Thr