Canonical Allele Identifier: CA2230373

Gene: SUMF1

Linked Data

• dbSNP Id: rs763890592
• ExAC: 3:4418072 T / C
• gnomAD v2: 3-4418072-T-C
• gnomAD v4: 3-4376388-T-C
• MyVariant Identifiers: chr3:g.4418072T>C (hg19) ; chr3:g.4376388T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4376388T>C , CM000665.2:g.4376388T>C	GRCh38
NC_000003.11:g.4418072T>C , CM000665.1:g.4418072T>C	GRCh37
NC_000003.10:g.4393072T>C	NCBI36
NG_016225.1:g.95895A>G
NG_016225.2:g.95895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.956A>G MANE Select	ENSP00000272902.5:p.Lys319Arg
ENST00000272902.9:c.956A>G	ENSP00000272902.5:p.Lys319Arg
ENST00000383843.9:c.881A>G	ENSP00000373355.5:p.Lys294Arg
ENST00000405420.2:c.955-14134A>G	ENSP00000384977.2:n.955-14134A>G
ENST00000448413.5:c.956A>G	ENSP00000404384.1:p.Lys319Arg
ENST00000458465.6:c.560A>G	ENSP00000410060.2:p.Lys187Arg
NM_001164674.1:c.881A>G	NP_001158146.1:p.Lys294Arg
NM_001164675.1:c.955-14134A>G	NP_001158147.1:n.955-14134A>G
NM_182760.3:c.956A>G	NP_877437.2:p.Lys319Arg
XM_011533623.1:c.956A>G	XP_011531925.1:p.Lys319Arg
XM_011533624.1:c.956A>G	XP_011531926.1:p.Lys319Arg
XM_011533625.1:c.956A>G	XP_011531927.1:p.Lys319Arg
XM_011533626.1:c.956A>G	XP_011531928.1:p.Lys319Arg
XM_011533624.3:c.956A>G	XP_011531926.1:p.Lys319Arg
XM_011533625.3:c.956A>G	XP_011531927.1:p.Lys319Arg
XM_011533626.3:c.956A>G	XP_011531928.1:p.Lys319Arg
XM_017006252.2:c.954+34477A>G	XP_016861741.1:n.954+34477A>G
XM_017006253.1:c.881A>G	XP_016861742.1:p.Lys294Arg
XM_017006254.2:c.956A>G	XP_016861743.1:p.Lys319Arg
XM_017006255.2:c.956A>G	XP_016861744.1:p.Lys319Arg
NM_182760.4:c.956A>G MANE Select	NP_877437.2:p.Lys319Arg
NM_001164674.2:c.881A>G	NP_001158146.1:p.Lys294Arg
NM_001164675.2:c.955-14134A>G	NP_001158147.1:n.955-14134A>G