Canonical Allele Identifier: CA316165344

Gene: CSTF1

Linked Data

• dbSNP Id: rs531348721
• gnomAD v3: 20-56393019-C-T
• gnomAD v4: 20-56393019-C-T
• MyVariant Identifiers: chr20:g.54968075C>T (hg19) ; chr20:g.56393019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56393019C>T , CM000682.2:g.56393019C>T	GRCh38
NC_000020.10:g.54968075C>T , CM000682.1:g.54968075C>T	GRCh37
NC_000020.9:g.54401482C>T	NCBI36
NG_012133.1:g.4277G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217109.9:c.-33+306C>T MANE Select	ENSP00000217109.4:n.-33+306C>T
ENST00000217109.8:c.-33+306C>T	ENSP00000217109.4:n.-33+306C>T
ENST00000415828.5:c.-33+481C>T	ENSP00000387968.1:n.-33+481C>T
ENST00000428552.1:c.-1+481C>T	ENSP00000405171.1:n.-1+481C>T
ENST00000452950.1:c.-33+204C>T	ENSP00000409035.1:n.-33+204C>T
ENST00000490539.1:c.-33+306C>T	ENSP00000479273.1:n.-33+306C>T
ENST00000493039.5:c.-33+204C>T	ENSP00000477958.1:n.-33+204C>T
ENST00000498689.5:n.168+481C>T
ENST00000613138.1:n.192+306C>T
NM_001033521.1:c.-33+481C>T	NP_001028693.1:n.-33+481C>T
NM_001033522.1:c.-33+204C>T	NP_001028694.1:n.-33+204C>T
NM_001324.2:c.-33+306C>T	NP_001315.1:n.-33+306C>T
XM_011528600.1:c.-33+280C>T	XP_011526902.1:n.-33+280C>T
NM_001033522.2:c.-33+204C>T	NP_001028694.1:n.-33+204C>T
NM_001324.3:c.-33+306C>T MANE Select	NP_001315.1:n.-33+306C>T
NM_001033521.2:c.-33+481C>T	NP_001028693.1:n.-33+481C>T