Canonical Allele Identifier: CA2230366

Gene: SUMF1

Linked Data

• dbSNP Id: rs770332036
• ExAC: 3:4418014 C / T
• gnomAD v2: 3-4418014-C-T
• gnomAD v4: 3-4376330-C-T
• MyVariant Identifiers: chr3:g.4418014C>T (hg19) ; chr3:g.4376330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4376330C>T , CM000665.2:g.4376330C>T	GRCh38
NC_000003.11:g.4418014C>T , CM000665.1:g.4418014C>T	GRCh37
NC_000003.10:g.4393014C>T	NCBI36
NG_016225.1:g.95953G>A
NG_016225.2:g.95953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.1014G>A MANE Select	ENSP00000272902.5:p.Arg338=
ENST00000272902.9:c.1014G>A	ENSP00000272902.5:p.Arg338=
ENST00000383843.9:c.939G>A	ENSP00000373355.5:p.Arg313=
ENST00000405420.2:c.955-14076G>A	ENSP00000384977.2:n.955-14076G>A
ENST00000448413.5:c.1014G>A	ENSP00000404384.1:p.Arg338=
ENST00000458465.6:c.618G>A	ENSP00000410060.2:p.Arg206=
NM_001164674.1:c.939G>A	NP_001158146.1:p.Arg313=
NM_001164675.1:c.955-14076G>A	NP_001158147.1:n.955-14076G>A
NM_182760.3:c.1014G>A	NP_877437.2:p.Arg338=
XM_011533623.1:c.1014G>A	XP_011531925.1:p.Arg338=
XM_011533624.1:c.1014G>A	XP_011531926.1:p.Arg338=
XM_011533625.1:c.1014G>A	XP_011531927.1:p.Arg338=
XM_011533626.1:c.1014G>A	XP_011531928.1:p.Arg338=
XM_011533624.3:c.1014G>A	XP_011531926.1:p.Arg338=
XM_011533625.3:c.1014G>A	XP_011531927.1:p.Arg338=
XM_011533626.3:c.1014G>A	XP_011531928.1:p.Arg338=
XM_017006252.2:c.954+34535G>A	XP_016861741.1:n.954+34535G>A
XM_017006253.1:c.939G>A	XP_016861742.1:p.Arg313=
XM_017006254.2:c.1014G>A	XP_016861743.1:p.Arg338=
XM_017006255.2:c.1014G>A	XP_016861744.1:p.Arg338=
NM_182760.4:c.1014G>A MANE Select	NP_877437.2:p.Arg338=
NM_001164674.2:c.939G>A	NP_001158146.1:p.Arg313=
NM_001164675.2:c.955-14076G>A	NP_001158147.1:n.955-14076G>A