Canonical Allele Identifier: CA351628188

Gene: SUMF1

Linked Data

• MyVariant Identifiers: chr3:g.4418021C>G (hg19) ; chr3:g.4376337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4376337C>G , CM000665.2:g.4376337C>G	GRCh38
NC_000003.11:g.4418021C>G , CM000665.1:g.4418021C>G	GRCh37
NC_000003.10:g.4393021C>G	NCBI36
NG_016225.1:g.95946G>C
NG_016225.2:g.95946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.1007G>C MANE Select	ENSP00000272902.5:p.Cys336Ser
ENST00000272902.9:c.1007G>C	ENSP00000272902.5:p.Cys336Ser
ENST00000383843.9:c.932G>C	ENSP00000373355.5:p.Cys311Ser
ENST00000405420.2:c.955-14083G>C	ENSP00000384977.2:n.955-14083G>C
ENST00000448413.5:c.1007G>C	ENSP00000404384.1:p.Cys336Ser
ENST00000458465.6:c.611G>C	ENSP00000410060.2:p.Cys204Ser
NM_001164674.1:c.932G>C	NP_001158146.1:p.Cys311Ser
NM_001164675.1:c.955-14083G>C	NP_001158147.1:n.955-14083G>C
NM_182760.3:c.1007G>C	NP_877437.2:p.Cys336Ser
XM_011533623.1:c.1007G>C	XP_011531925.1:p.Cys336Ser
XM_011533624.1:c.1007G>C	XP_011531926.1:p.Cys336Ser
XM_011533625.1:c.1007G>C	XP_011531927.1:p.Cys336Ser
XM_011533626.1:c.1007G>C	XP_011531928.1:p.Cys336Ser
XM_011533624.3:c.1007G>C	XP_011531926.1:p.Cys336Ser
XM_011533625.3:c.1007G>C	XP_011531927.1:p.Cys336Ser
XM_011533626.3:c.1007G>C	XP_011531928.1:p.Cys336Ser
XM_017006252.2:c.954+34528G>C	XP_016861741.1:n.954+34528G>C
XM_017006253.1:c.932G>C	XP_016861742.1:p.Cys311Ser
XM_017006254.2:c.1007G>C	XP_016861743.1:p.Cys336Ser
XM_017006255.2:c.1007G>C	XP_016861744.1:p.Cys336Ser
NM_182760.4:c.1007G>C MANE Select	NP_877437.2:p.Cys336Ser
NM_001164674.2:c.932G>C	NP_001158146.1:p.Cys311Ser
NM_001164675.2:c.955-14083G>C	NP_001158147.1:n.955-14083G>C