Canonical Allele Identifier: CA316165349

Gene: CSTF1

Linked Data

• dbSNP Id: rs1046834942
• gnomAD v2: 20-54968109-G-T
• gnomAD v3: 20-56393053-G-T
• gnomAD v4: 20-56393053-G-T
• MyVariant Identifiers: chr20:g.54968109G>T (hg19) ; chr20:g.56393053G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.56393053G>T , CM000682.2:g.56393053G>T	GRCh38
NC_000020.10:g.54968109G>T , CM000682.1:g.54968109G>T	GRCh37
NC_000020.9:g.54401516G>T	NCBI36
NG_012133.1:g.4243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217109.9:c.-33+340G>T MANE Select	ENSP00000217109.4:n.-33+340G>T
ENST00000217109.8:c.-33+340G>T	ENSP00000217109.4:n.-33+340G>T
ENST00000415828.5:c.-33+515G>T	ENSP00000387968.1:n.-33+515G>T
ENST00000428552.1:c.-1+515G>T	ENSP00000405171.1:n.-1+515G>T
ENST00000452950.1:c.-33+238G>T	ENSP00000409035.1:n.-33+238G>T
ENST00000490539.1:c.-33+340G>T	ENSP00000479273.1:n.-33+340G>T
ENST00000493039.5:c.-33+238G>T	ENSP00000477958.1:n.-33+238G>T
ENST00000498689.5:n.168+515G>T
ENST00000613138.1:n.192+340G>T
NM_001033521.1:c.-33+515G>T	NP_001028693.1:n.-33+515G>T
NM_001033522.1:c.-33+238G>T	NP_001028694.1:n.-33+238G>T
NM_001324.2:c.-33+340G>T	NP_001315.1:n.-33+340G>T
XM_011528600.1:c.-33+314G>T	XP_011526902.1:n.-33+314G>T
NM_001033522.2:c.-33+238G>T	NP_001028694.1:n.-33+238G>T
NM_001324.3:c.-33+340G>T MANE Select	NP_001315.1:n.-33+340G>T
NM_001033521.2:c.-33+515G>T	NP_001028693.1:n.-33+515G>T