Canonical Allele Identifier: CA409398526

Gene: CSTF1

Linked Data

• ClinVar Variation Id: 3078437
• ClinVar RCV Id: RCV004372750
• gnomAD v4: 20-56399181-A-G
• MyVariant Identifiers: chr20:g.54974237A>G (hg19) ; chr20:g.56399181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56399181A>G , CM000682.2:g.56399181A>G	GRCh38
NC_000020.10:g.54974237A>G , CM000682.1:g.54974237A>G	GRCh37
NC_000020.9:g.54407644A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217109.9:c.860A>G MANE Select	ENSP00000217109.4:p.Lys287Arg
ENST00000217109.8:c.860A>G	ENSP00000217109.4:p.Lys287Arg
ENST00000415828.5:c.860A>G	ENSP00000387968.1:p.Lys287Arg
ENST00000452950.1:c.860A>G	ENSP00000409035.1:p.Lys287Arg
ENST00000493039.5:c.*718A>G	ENSP00000477958.1:n.*718A>G
NM_001033521.1:c.860A>G	NP_001028693.1:p.Lys287Arg
NM_001033522.1:c.860A>G	NP_001028694.1:p.Lys287Arg
NM_001324.2:c.860A>G	NP_001315.1:p.Lys287Arg
XM_011528600.1:c.860A>G	XP_011526902.1:p.Lys287Arg
NM_001033522.2:c.860A>G	NP_001028694.1:p.Lys287Arg
NM_001324.3:c.860A>G MANE Select	NP_001315.1:p.Lys287Arg
NM_001033521.2:c.860A>G	NP_001028693.1:p.Lys287Arg