Canonical Allele Identifier: CA16617969

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 418724
• ClinVar RCV Id: RCV000481019 ; RCV000624193 ; RCV000723283 ; RCV004527375
• dbSNP Id: rs1064793391
• MyVariant Identifiers: chr3:g.4458867T>C (hg19) ; chr3:g.4417183T>C (hg38)
• PubMed: PMID:2894304 ; PMID:11737681 ; PMID:12757706 ; PMID:15907468 ; PMID:18157819 ; PMID:21224894 ; PMID:25885655

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4417183T>C , CM000665.2:g.4417183T>C	GRCh38
NC_000003.11:g.4458867T>C , CM000665.1:g.4458867T>C	GRCh37
NC_000003.10:g.4433867T>C	NCBI36
NG_016225.1:g.55100A>G
NG_016225.2:g.55100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.785A>G MANE Select	ENSP00000272902.5:p.Gln262Arg
ENST00000272902.9:c.785A>G	ENSP00000272902.5:p.Gln262Arg
ENST00000383843.9:c.710A>G	ENSP00000373355.5:p.Gln237Arg
ENST00000405420.2:c.785A>G	ENSP00000384977.2:p.Gln262Arg
ENST00000448413.5:c.785A>G	ENSP00000404384.1:p.Gln262Arg
ENST00000458465.6:c.445-6205A>G	ENSP00000410060.2:n.445-6205A>G
NM_001164674.1:c.710A>G	NP_001158146.1:p.Gln237Arg
NM_001164675.1:c.785A>G	NP_001158147.1:p.Gln262Arg
NM_182760.3:c.785A>G	NP_877437.2:p.Gln262Arg
XM_011533623.1:c.785A>G	XP_011531925.1:p.Gln262Arg
XM_011533624.1:c.785A>G	XP_011531926.1:p.Gln262Arg
XM_011533625.1:c.785A>G	XP_011531927.1:p.Gln262Arg
XM_011533626.1:c.785A>G	XP_011531928.1:p.Gln262Arg
XM_011533624.3:c.785A>G	XP_011531926.1:p.Gln262Arg
XM_011533625.3:c.785A>G	XP_011531927.1:p.Gln262Arg
XM_011533626.3:c.785A>G	XP_011531928.1:p.Gln262Arg
XM_017006252.2:c.785A>G	XP_016861741.1:p.Gln262Arg
XM_017006253.1:c.710A>G	XP_016861742.1:p.Gln237Arg
XM_017006254.2:c.785A>G	XP_016861743.1:p.Gln262Arg
XM_017006255.2:c.785A>G	XP_016861744.1:p.Gln262Arg
NM_182760.4:c.785A>G MANE Select	NP_877437.2:p.Gln262Arg
NM_001164674.2:c.710A>G	NP_001158146.1:p.Gln237Arg
NM_001164675.2:c.785A>G	NP_001158147.1:p.Gln262Arg