Canonical Allele Identifier: CA511034045

Gene: CSTF1

Linked Data

• dbSNP Id: rs1438588354
• gnomAD v3: 20-56392922-C-G
• gnomAD v4: 20-56392922-C-G
• MyVariant Identifiers: chr20:g.54967978C>G (hg19) ; chr20:g.56392922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56392922C>G , CM000682.2:g.56392922C>G	GRCh38
NC_000020.10:g.54967978C>G , CM000682.1:g.54967978C>G	GRCh37
NC_000020.9:g.54401385C>G	NCBI36
NG_012133.1:g.4374G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217109.9:c.-33+209C>G MANE Select	ENSP00000217109.4:n.-33+209C>G
ENST00000217109.8:c.-33+209C>G	ENSP00000217109.4:n.-33+209C>G
ENST00000415828.5:c.-33+384C>G	ENSP00000387968.1:n.-33+384C>G
ENST00000428552.1:c.-1+384C>G	ENSP00000405171.1:n.-1+384C>G
ENST00000452950.1:c.-33+107C>G	ENSP00000409035.1:n.-33+107C>G
ENST00000490539.1:c.-33+209C>G	ENSP00000479273.1:n.-33+209C>G
ENST00000493039.5:c.-33+107C>G	ENSP00000477958.1:n.-33+107C>G
ENST00000498689.5:n.168+384C>G
ENST00000613138.1:n.192+209C>G
NM_001033521.1:c.-33+384C>G	NP_001028693.1:n.-33+384C>G
NM_001033522.1:c.-33+107C>G	NP_001028694.1:n.-33+107C>G
NM_001324.2:c.-33+209C>G	NP_001315.1:n.-33+209C>G
XM_011528600.1:c.-33+183C>G	XP_011526902.1:n.-33+183C>G
NM_001033522.2:c.-33+107C>G	NP_001028694.1:n.-33+107C>G
NM_001324.3:c.-33+209C>G MANE Select	NP_001315.1:n.-33+209C>G
NM_001033521.2:c.-33+384C>G	NP_001028693.1:n.-33+384C>G