Canonical Allele Identifier: CA115681
Gene: SUMF1 HGNC NCBI
ClinVar RCV:
RCV000002798
ClinVar Variation:
2679
dbSNP:
137852855
gnomAD v4:
chr3-4467245-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr3:g.4467245T>C
GRCh37 chr3:g.4508929T>C
Revel Score:
ENST00000534982 0.735
ENST00000534863 0.735
ENST00000272902 (MANE Select) 0.735
ENST00000383843 0.735
ENST00000458465 0.735
ENST00000405420 0.735
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4467245T>C , CM000665.2:g.4467245T>C GRCh38
NC_000003.11:g.4508929T>C , CM000665.1:g.4508929T>C GRCh37
NC_000003.10:g.4483929T>C NCBI36
NG_016225.1:g.5038A>G
NG_016225.2:g.5038A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272902.10:c.1A>G MANE Select ENSP00000272902.5:p.Met1Val
ENST00000272902.9:c.1A>G ENSP00000272902.5:p.Met1Val
ENST00000383843.9:c.1A>G ENSP00000373355.5:p.Met1Val
ENST00000405420.2:c.1A>G ENSP00000384977.2:p.Met1Val
ENST00000448413.5:c.1A>G ENSP00000404384.1:p.Met1Val
ENST00000458465.6:c.1A>G ENSP00000410060.2:p.Met1Val
NM_001164674.1:c.1A>G NP_001158146.1:p.Met1Val
NM_001164675.1:c.1A>G NP_001158147.1:p.Met1Val
NM_182760.3:c.1A>G NP_877437.2:p.Met1Val
XM_011533623.1:c.1A>G XP_011531925.1:p.Met1Val
XM_011533624.1:c.1A>G XP_011531926.1:p.Met1Val
XM_011533625.1:c.1A>G XP_011531927.1:p.Met1Val
XM_011533626.1:c.1A>G XP_011531928.1:p.Met1Val
XM_011533624.3:c.1A>G XP_011531926.1:p.Met1Val
XM_011533625.3:c.1A>G XP_011531927.1:p.Met1Val
XM_011533626.3:c.1A>G XP_011531928.1:p.Met1Val
XM_017006252.2:c.1A>G XP_016861741.1:p.Met1Val
XM_017006253.1:c.1A>G XP_016861742.1:p.Met1Val
XM_017006254.2:c.1A>G XP_016861743.1:p.Met1Val
XM_017006255.2:c.1A>G XP_016861744.1:p.Met1Val
NM_182760.4:c.1A>G MANE Select NP_877437.2:p.Met1Val
NM_001164674.2:c.1A>G NP_001158146.1:p.Met1Val
NM_001164675.2:c.1A>G NP_001158147.1:p.Met1Val
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