Canonical Allele Identifier: CA316165270

Gene: CSTF1

Linked Data

• dbSNP Id: rs960411314
• gnomAD v3: 20-56392906-C-G
• gnomAD v4: 20-56392906-C-G
• MyVariant Identifiers: chr20:g.54967962C>G (hg19) ; chr20:g.56392906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56392906C>G , CM000682.2:g.56392906C>G	GRCh38
NC_000020.10:g.54967962C>G , CM000682.1:g.54967962C>G	GRCh37
NC_000020.9:g.54401369C>G	NCBI36
NG_012133.1:g.4390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217109.9:c.-33+193C>G MANE Select	ENSP00000217109.4:n.-33+193C>G
ENST00000217109.8:c.-33+193C>G	ENSP00000217109.4:n.-33+193C>G
ENST00000415828.5:c.-33+368C>G	ENSP00000387968.1:n.-33+368C>G
ENST00000428552.1:c.-1+368C>G	ENSP00000405171.1:n.-1+368C>G
ENST00000452950.1:c.-33+91C>G	ENSP00000409035.1:n.-33+91C>G
ENST00000490539.1:c.-33+193C>G	ENSP00000479273.1:n.-33+193C>G
ENST00000493039.5:c.-33+91C>G	ENSP00000477958.1:n.-33+91C>G
ENST00000498689.5:n.168+368C>G
ENST00000613138.1:n.192+193C>G
NM_001033521.1:c.-33+368C>G	NP_001028693.1:n.-33+368C>G
NM_001033522.1:c.-33+91C>G	NP_001028694.1:n.-33+91C>G
NM_001324.2:c.-33+193C>G	NP_001315.1:n.-33+193C>G
XM_011528600.1:c.-33+167C>G	XP_011526902.1:n.-33+167C>G
NM_001033522.2:c.-33+91C>G	NP_001028694.1:n.-33+91C>G
NM_001324.3:c.-33+193C>G MANE Select	NP_001315.1:n.-33+193C>G
NM_001033521.2:c.-33+368C>G	NP_001028693.1:n.-33+368C>G