Canonical Allele Identifier: CA408422295

Gene: CST8

Linked Data

• ClinVar Variation Id: 2481285
• ClinVar RCV Id: RCV004271976
• MyVariant Identifiers: chr20:g.23473667A>G (hg19) ; chr20:g.23493030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23493030A>G , CM000682.2:g.23493030A>G	GRCh38
NC_000020.10:g.23473667A>G , CM000682.1:g.23473667A>G	GRCh37
NC_000020.9:g.23421667A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246012.2:c.304A>G MANE Select	ENSP00000246012.1:p.Asn102Asp
ENST00000246012.1:c.304A>G	ENSP00000246012.1:p.Asn102Asp
ENST00000449810.5:c.304A>G	ENSP00000399144.1:p.Asn102Asp
NM_001281730.1:c.304A>G	NP_001268659.1:p.Asn102Asp
NM_005492.3:c.304A>G	NP_005483.1:p.Asn102Asp
XR_937015.1:n.714A>G
XR_937016.1:n.781A>G
XR_937017.1:n.714A>G
XR_937018.1:n.714A>G
XR_937019.1:n.555A>G
XR_001754109.1:n.713A>G
XR_937015.2:n.713A>G
XR_937016.2:n.780A>G
XR_937017.2:n.713A>G
XR_937018.2:n.713A>G
XR_937019.2:n.550A>G
NM_001281730.2:c.304A>G	NP_001268659.1:p.Asn102Asp
NM_005492.4:c.304A>G MANE Select	NP_005483.1:p.Asn102Asp