Canonical Allele Identifier: CA2371347838
Gene: CSTF1 HGNC NCBI

Linked Data

dbSNP Id: rs1600725764

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.56393040T>C , CM000682.2:g.56393040T>C GRCh38
NC_000020.10:g.54968096T>C , CM000682.1:g.54968096T>C GRCh37
NC_000020.9:g.54401503T>C NCBI36
NG_012133.1:g.4256A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217109.9:c.-33+327T>C MANE Select ENSP00000217109.4:n.-33+327T>C
ENST00000217109.8:c.-33+327T>C ENSP00000217109.4:n.-33+327T>C
ENST00000415828.5:c.-33+502T>C ENSP00000387968.1:n.-33+502T>C
ENST00000428552.1:c.-1+502T>C ENSP00000405171.1:n.-1+502T>C
ENST00000452950.1:c.-33+225T>C ENSP00000409035.1:n.-33+225T>C
ENST00000490539.1:c.-33+327T>C ENSP00000479273.1:n.-33+327T>C
ENST00000493039.5:c.-33+225T>C ENSP00000477958.1:n.-33+225T>C
ENST00000498689.5:n.168+502T>C
ENST00000613138.1:n.192+327T>C
NM_001033521.1:c.-33+502T>C NP_001028693.1:n.-33+502T>C
NM_001033522.1:c.-33+225T>C NP_001028694.1:n.-33+225T>C
NM_001324.2:c.-33+327T>C NP_001315.1:n.-33+327T>C
XM_011528600.1:c.-33+301T>C XP_011526902.1:n.-33+301T>C
NM_001033522.2:c.-33+225T>C NP_001028694.1:n.-33+225T>C
NM_001324.3:c.-33+327T>C MANE Select NP_001315.1:n.-33+327T>C
NM_001033521.2:c.-33+502T>C NP_001028693.1:n.-33+502T>C