Canonical Allele Identifier: CA115675

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 2672
• ClinVar RCV Id: RCV000002791 ; RCV000082715
• dbSNP Id: rs137852850
• ExAC: 3:4491006 A / G
• gnomAD v2: 3-4491006-A-G
• gnomAD v3: 3-4449322-A-G
• gnomAD v4: 3-4449322-A-G
• MyVariant Identifiers: chr3:g.4491006A>G (hg19) ; chr3:g.4449322A>G (hg38)
• PubMed: PMID:12757706 ; PMID:15146462 ; PMID:15907468 ; PMID:16125993 ; PMID:17657823 ; PMID:21224894 ; PMID:23891399 ; PMID:25885655 ; PMID:27415407

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4449322A>G , CM000665.2:g.4449322A>G	GRCh38
NC_000003.11:g.4491006A>G , CM000665.1:g.4491006A>G	GRCh37
NC_000003.10:g.4466006A>G	NCBI36
NG_016225.1:g.22961T>C
NG_016225.2:g.22961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.463T>C MANE Select	ENSP00000272902.5:p.Ser155Pro
ENST00000272902.9:c.463T>C	ENSP00000272902.5:p.Ser155Pro
ENST00000383843.9:c.444+3554T>C	ENSP00000373355.5:n.444+3554T>C
ENST00000405420.2:c.463T>C	ENSP00000384977.2:p.Ser155Pro
ENST00000448413.5:c.463T>C	ENSP00000404384.1:p.Ser155Pro
ENST00000458465.6:c.444+3554T>C	ENSP00000410060.2:n.444+3554T>C
NM_001164674.1:c.444+3554T>C	NP_001158146.1:n.444+3554T>C
NM_001164675.1:c.463T>C	NP_001158147.1:p.Ser155Pro
NM_182760.3:c.463T>C	NP_877437.2:p.Ser155Pro
XM_011533623.1:c.463T>C	XP_011531925.1:p.Ser155Pro
XM_011533624.1:c.463T>C	XP_011531926.1:p.Ser155Pro
XM_011533625.1:c.463T>C	XP_011531927.1:p.Ser155Pro
XM_011533626.1:c.463T>C	XP_011531928.1:p.Ser155Pro
XM_011533624.3:c.463T>C	XP_011531926.1:p.Ser155Pro
XM_011533625.3:c.463T>C	XP_011531927.1:p.Ser155Pro
XM_011533626.3:c.463T>C	XP_011531928.1:p.Ser155Pro
XM_017006252.2:c.463T>C	XP_016861741.1:p.Ser155Pro
XM_017006253.1:c.444+3554T>C	XP_016861742.1:n.444+3554T>C
XM_017006254.2:c.463T>C	XP_016861743.1:p.Ser155Pro
XM_017006255.2:c.463T>C	XP_016861744.1:p.Ser155Pro
NM_182760.4:c.463T>C MANE Select	NP_877437.2:p.Ser155Pro
NM_001164674.2:c.444+3554T>C	NP_001158146.1:n.444+3554T>C
NM_001164675.2:c.463T>C	NP_001158147.1:p.Ser155Pro