Canonical Allele Identifier: CA115680

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 2677
• ClinVar RCV Id: RCV000002796
• dbSNP Id: rs137852854
• gnomAD v2: 3-4459766-C-T
• gnomAD v4: 3-4418082-C-T
• MyVariant Identifiers: chr3:g.4459766C>T (hg19) ; chr3:g.4418082C>T (hg38)
• PubMed: PMID:12757706

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4418082C>T , CM000665.2:g.4418082C>T	GRCh38
NC_000003.11:g.4459766C>T , CM000665.1:g.4459766C>T	GRCh37
NC_000003.10:g.4434766C>T	NCBI36
NG_016225.1:g.54201G>A
NG_016225.2:g.54201G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.653G>A MANE Select	ENSP00000272902.5:p.Cys218Tyr
ENST00000272902.9:c.653G>A	ENSP00000272902.5:p.Cys218Tyr
ENST00000383843.9:c.578G>A	ENSP00000373355.5:p.Cys193Tyr
ENST00000405420.2:c.653G>A	ENSP00000384977.2:p.Cys218Tyr
ENST00000448413.5:c.653G>A	ENSP00000404384.1:p.Cys218Tyr
ENST00000458465.6:c.445-7104G>A	ENSP00000410060.2:n.445-7104G>A
NM_001164674.1:c.578G>A	NP_001158146.1:p.Cys193Tyr
NM_001164675.1:c.653G>A	NP_001158147.1:p.Cys218Tyr
NM_182760.3:c.653G>A	NP_877437.2:p.Cys218Tyr
XM_011533623.1:c.653G>A	XP_011531925.1:p.Cys218Tyr
XM_011533624.1:c.653G>A	XP_011531926.1:p.Cys218Tyr
XM_011533625.1:c.653G>A	XP_011531927.1:p.Cys218Tyr
XM_011533626.1:c.653G>A	XP_011531928.1:p.Cys218Tyr
XM_011533624.3:c.653G>A	XP_011531926.1:p.Cys218Tyr
XM_011533625.3:c.653G>A	XP_011531927.1:p.Cys218Tyr
XM_011533626.3:c.653G>A	XP_011531928.1:p.Cys218Tyr
XM_017006252.2:c.653G>A	XP_016861741.1:p.Cys218Tyr
XM_017006253.1:c.578G>A	XP_016861742.1:p.Cys193Tyr
XM_017006254.2:c.653G>A	XP_016861743.1:p.Cys218Tyr
XM_017006255.2:c.653G>A	XP_016861744.1:p.Cys218Tyr
NM_182760.4:c.653G>A MANE Select	NP_877437.2:p.Cys218Tyr
NM_001164674.2:c.578G>A	NP_001158146.1:p.Cys193Tyr
NM_001164675.2:c.653G>A	NP_001158147.1:p.Cys218Tyr