Canonical Allele Identifier: CA115671

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 2666
• ClinVar RCV Id: RCV000002785 ; RCV001582462
• dbSNP Id: rs137852846
• ExAC: 3:4403908 G / A
• gnomAD v2: 3-4403908-G-A
• gnomAD v3: 3-4362224-G-A
• gnomAD v4: 3-4362224-G-A
• COSMIC: COSM4444914
• MyVariant Identifiers: chr3:g.4403908G>A (hg19) ; chr3:g.4362224G>A (hg38)
• PubMed: PMID:12757705 ; PMID:12757706

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4362224G>A , CM000665.2:g.4362224G>A	GRCh38
NC_000003.11:g.4403908G>A , CM000665.1:g.4403908G>A	GRCh37
NC_000003.10:g.4378908G>A	NCBI36
NG_016225.1:g.110059C>T
NG_016225.2:g.110059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.1045C>T MANE Select	ENSP00000272902.5:p.Arg349Trp
ENST00000272902.9:c.1045C>T	ENSP00000272902.5:p.Arg349Trp
ENST00000383843.9:c.970C>T	ENSP00000373355.5:p.Arg324Trp
ENST00000405420.2:c.985C>T	ENSP00000384977.2:p.Arg329Trp
ENST00000448413.5:c.1014+14106C>T	ENSP00000404384.1:n.1014+14106C>T
ENST00000458465.6:c.649C>T	ENSP00000410060.2:p.Arg217Trp
NM_001164674.1:c.970C>T	NP_001158146.1:p.Arg324Trp
NM_001164675.1:c.985C>T	NP_001158147.1:p.Arg329Trp
NM_182760.3:c.1045C>T	NP_877437.2:p.Arg349Trp
XM_011533623.1:c.1014+14106C>T	XP_011531925.1:n.1014+14106C>T
XM_011533624.1:c.1014+14106C>T	XP_011531926.1:n.1014+14106C>T
XM_011533625.1:c.1014+14106C>T	XP_011531927.1:n.1014+14106C>T
XM_011533626.1:c.1015-10593C>T	XP_011531928.1:n.1015-10593C>T
XM_011533624.3:c.1014+14106C>T	XP_011531926.1:n.1014+14106C>T
XM_011533625.3:c.1014+14106C>T	XP_011531927.1:n.1014+14106C>T
XM_011533626.3:c.1015-10593C>T	XP_011531928.1:n.1015-10593C>T
XM_017006252.2:c.954+48641C>T	XP_016861741.1:n.954+48641C>T
XM_017006253.1:c.939+14106C>T	XP_016861742.1:n.939+14106C>T
XM_017006254.2:c.1014+14106C>T	XP_016861743.1:n.1014+14106C>T
XM_017006255.2:c.1014+14106C>T	XP_016861744.1:n.1014+14106C>T
NM_182760.4:c.1045C>T MANE Select	NP_877437.2:p.Arg349Trp
NM_001164674.2:c.970C>T	NP_001158146.1:p.Arg324Trp
NM_001164675.2:c.985C>T	NP_001158147.1:p.Arg329Trp