Canonical Allele Identifier: CA636180077

Gene: CSTF1

Linked Data

• dbSNP Id: rs1487719282
• gnomAD v2: 20-54968044-G-C
• gnomAD v3: 20-56392988-G-C
• gnomAD v4: 20-56392988-G-C
• MyVariant Identifiers: chr20:g.54968044G>C (hg19) ; chr20:g.56392988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56392988G>C , CM000682.2:g.56392988G>C	GRCh38
NC_000020.10:g.54968044G>C , CM000682.1:g.54968044G>C	GRCh37
NC_000020.9:g.54401451G>C	NCBI36
NG_012133.1:g.4308C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217109.9:c.-33+275G>C MANE Select	ENSP00000217109.4:n.-33+275G>C
ENST00000217109.8:c.-33+275G>C	ENSP00000217109.4:n.-33+275G>C
ENST00000415828.5:c.-33+450G>C	ENSP00000387968.1:n.-33+450G>C
ENST00000428552.1:c.-1+450G>C	ENSP00000405171.1:n.-1+450G>C
ENST00000452950.1:c.-33+173G>C	ENSP00000409035.1:n.-33+173G>C
ENST00000490539.1:c.-33+275G>C	ENSP00000479273.1:n.-33+275G>C
ENST00000493039.5:c.-33+173G>C	ENSP00000477958.1:n.-33+173G>C
ENST00000498689.5:n.168+450G>C
ENST00000613138.1:n.192+275G>C
NM_001033521.1:c.-33+450G>C	NP_001028693.1:n.-33+450G>C
NM_001033522.1:c.-33+173G>C	NP_001028694.1:n.-33+173G>C
NM_001324.2:c.-33+275G>C	NP_001315.1:n.-33+275G>C
XM_011528600.1:c.-33+249G>C	XP_011526902.1:n.-33+249G>C
NM_001033522.2:c.-33+173G>C	NP_001028694.1:n.-33+173G>C
NM_001324.3:c.-33+275G>C MANE Select	NP_001315.1:n.-33+275G>C
NM_001033521.2:c.-33+450G>C	NP_001028693.1:n.-33+450G>C