Canonical Allele Identifier: CA2230335

Gene: SUMF1

Linked Data

• dbSNP Id: rs745986003
• ExAC: 3:4403931 C / A
• gnomAD v2: 3-4403931-C-A
• MyVariant Identifiers: chr3:g.4403931C>A (hg19) ; chr3:g.4362247C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4362247C>A , CM000665.2:g.4362247C>A	GRCh38
NC_000003.11:g.4403931C>A , CM000665.1:g.4403931C>A	GRCh37
NC_000003.10:g.4378931C>A	NCBI36
NG_016225.1:g.110036G>T
NG_016225.2:g.110036G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272902.10:c.1022G>T MANE Select	ENSP00000272902.5:p.Cys341Phe
ENST00000272902.9:c.1022G>T	ENSP00000272902.5:p.Cys341Phe
ENST00000383843.9:c.947G>T	ENSP00000373355.5:p.Cys316Phe
ENST00000405420.2:c.962G>T	ENSP00000384977.2:p.Cys321Phe
ENST00000448413.5:c.1014+14083G>T	ENSP00000404384.1:n.1014+14083G>T
ENST00000458465.6:c.626G>T	ENSP00000410060.2:p.Cys209Phe
NM_001164674.1:c.947G>T	NP_001158146.1:p.Cys316Phe
NM_001164675.1:c.962G>T	NP_001158147.1:p.Cys321Phe
NM_182760.3:c.1022G>T	NP_877437.2:p.Cys341Phe
XM_011533623.1:c.1014+14083G>T	XP_011531925.1:n.1014+14083G>T
XM_011533624.1:c.1014+14083G>T	XP_011531926.1:n.1014+14083G>T
XM_011533625.1:c.1014+14083G>T	XP_011531927.1:n.1014+14083G>T
XM_011533626.1:c.1015-10616G>T	XP_011531928.1:n.1015-10616G>T
XM_011533624.3:c.1014+14083G>T	XP_011531926.1:n.1014+14083G>T
XM_011533625.3:c.1014+14083G>T	XP_011531927.1:n.1014+14083G>T
XM_011533626.3:c.1015-10616G>T	XP_011531928.1:n.1015-10616G>T
XM_017006252.2:c.954+48618G>T	XP_016861741.1:n.954+48618G>T
XM_017006253.1:c.939+14083G>T	XP_016861742.1:n.939+14083G>T
XM_017006254.2:c.1014+14083G>T	XP_016861743.1:n.1014+14083G>T
XM_017006255.2:c.1014+14083G>T	XP_016861744.1:n.1014+14083G>T
NM_182760.4:c.1022G>T MANE Select	NP_877437.2:p.Cys341Phe
NM_001164674.2:c.947G>T	NP_001158146.1:p.Cys316Phe
NM_001164675.2:c.962G>T	NP_001158147.1:p.Cys321Phe