Canonical Allele Identifier: CA409398546

Gene: CSTF1

Linked Data

• ClinVar Variation Id: 2237726
• ClinVar RCV Id: RCV004098700
• MyVariant Identifiers: chr20:g.54974245G>A (hg19) ; chr20:g.56399189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56399189G>A , CM000682.2:g.56399189G>A	GRCh38
NC_000020.10:g.54974245G>A , CM000682.1:g.54974245G>A	GRCh37
NC_000020.9:g.54407652G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217109.9:c.868G>A MANE Select	ENSP00000217109.4:p.Asp290Asn
ENST00000217109.8:c.868G>A	ENSP00000217109.4:p.Asp290Asn
ENST00000415828.5:c.868G>A	ENSP00000387968.1:p.Asp290Asn
ENST00000452950.1:c.868G>A	ENSP00000409035.1:p.Asp290Asn
ENST00000493039.5:c.*726G>A	ENSP00000477958.1:n.*726G>A
NM_001033521.1:c.868G>A	NP_001028693.1:p.Asp290Asn
NM_001033522.1:c.868G>A	NP_001028694.1:p.Asp290Asn
NM_001324.2:c.868G>A	NP_001315.1:p.Asp290Asn
XM_011528600.1:c.868G>A	XP_011526902.1:p.Asp290Asn
NM_001033522.2:c.868G>A	NP_001028694.1:p.Asp290Asn
NM_001324.3:c.868G>A MANE Select	NP_001315.1:p.Asp290Asn
NM_001033521.2:c.868G>A	NP_001028693.1:p.Asp290Asn