Canonical Allele Identifier: CA115673

Gene: SUMF1

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

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