Canonical Allele Identifier: CA115673
Gene: SUMF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2668
ClinVar RCV Id: RCV000002787
dbSNP Id: rs137852848
MyVariant Identifiers: chr3:g.4418022A>G (hg19) chr3:g.4376338A>G (hg38)
PubMed: PMID:12757705 PMID:12757706
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4376338A>G , CM000665.2:g.4376338A>G GRCh38
NC_000003.11:g.4418022A>G , CM000665.1:g.4418022A>G GRCh37
NC_000003.10:g.4393022A>G NCBI36
NG_016225.1:g.95945T>C
NG_016225.2:g.95945T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272902.10:c.1006T>C MANE Select ENSP00000272902.5:p.Cys336Arg
ENST00000272902.9:c.1006T>C ENSP00000272902.5:p.Cys336Arg
ENST00000383843.9:c.931T>C ENSP00000373355.5:p.Cys311Arg
ENST00000405420.2:c.955-14084T>C ENSP00000384977.2:n.955-14084T>C
ENST00000448413.5:c.1006T>C ENSP00000404384.1:p.Cys336Arg
ENST00000458465.6:c.610T>C ENSP00000410060.2:p.Cys204Arg
NM_001164674.1:c.931T>C NP_001158146.1:p.Cys311Arg
NM_001164675.1:c.955-14084T>C NP_001158147.1:n.955-14084T>C
NM_182760.3:c.1006T>C NP_877437.2:p.Cys336Arg
XM_011533623.1:c.1006T>C XP_011531925.1:p.Cys336Arg
XM_011533624.1:c.1006T>C XP_011531926.1:p.Cys336Arg
XM_011533625.1:c.1006T>C XP_011531927.1:p.Cys336Arg
XM_011533626.1:c.1006T>C XP_011531928.1:p.Cys336Arg
XM_011533624.3:c.1006T>C XP_011531926.1:p.Cys336Arg
XM_011533625.3:c.1006T>C XP_011531927.1:p.Cys336Arg
XM_011533626.3:c.1006T>C XP_011531928.1:p.Cys336Arg
XM_017006252.2:c.954+34527T>C XP_016861741.1:n.954+34527T>C
XM_017006253.1:c.931T>C XP_016861742.1:p.Cys311Arg
XM_017006254.2:c.1006T>C XP_016861743.1:p.Cys336Arg
XM_017006255.2:c.1006T>C XP_016861744.1:p.Cys336Arg
NM_182760.4:c.1006T>C MANE Select NP_877437.2:p.Cys336Arg
NM_001164674.2:c.931T>C NP_001158146.1:p.Cys311Arg
NM_001164675.2:c.955-14084T>C NP_001158147.1:n.955-14084T>C
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