Canonical Allele Identifier: CA351632978

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 488612
• ClinVar RCV Id: RCV000578288 ; RCV001169981
• dbSNP Id: rs1553575867
• MyVariant Identifiers: chr3:g.4461808A>C (hg19) ; chr3:g.4420124A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4420124A>C , CM000665.2:g.4420124A>C	GRCh38
NC_000003.11:g.4461808A>C , CM000665.1:g.4461808A>C	GRCh37
NC_000003.10:g.4436808A>C	NCBI36
NG_016225.1:g.52159T>G
NG_016225.2:g.52159T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.542T>G MANE Select	ENSP00000272902.5:p.Leu181Ter
ENST00000272902.9:c.542T>G	ENSP00000272902.5:p.Leu181Ter
ENST00000383843.9:c.467T>G	ENSP00000373355.5:p.Leu156Ter
ENST00000405420.2:c.542T>G	ENSP00000384977.2:p.Leu181Ter
ENST00000448413.5:c.542T>G	ENSP00000404384.1:p.Leu181Ter
ENST00000458465.6:c.445-9146T>G	ENSP00000410060.2:n.445-9146T>G
NM_001164674.1:c.467T>G	NP_001158146.1:p.Leu156Ter
NM_001164675.1:c.542T>G	NP_001158147.1:p.Leu181Ter
NM_182760.3:c.542T>G	NP_877437.2:p.Leu181Ter
XM_011533623.1:c.542T>G	XP_011531925.1:p.Leu181Ter
XM_011533624.1:c.542T>G	XP_011531926.1:p.Leu181Ter
XM_011533625.1:c.542T>G	XP_011531927.1:p.Leu181Ter
XM_011533626.1:c.542T>G	XP_011531928.1:p.Leu181Ter
XM_011533624.3:c.542T>G	XP_011531926.1:p.Leu181Ter
XM_011533625.3:c.542T>G	XP_011531927.1:p.Leu181Ter
XM_011533626.3:c.542T>G	XP_011531928.1:p.Leu181Ter
XM_017006252.2:c.542T>G	XP_016861741.1:p.Leu181Ter
XM_017006253.1:c.467T>G	XP_016861742.1:p.Leu156Ter
XM_017006254.2:c.542T>G	XP_016861743.1:p.Leu181Ter
XM_017006255.2:c.542T>G	XP_016861744.1:p.Leu181Ter
NM_182760.4:c.542T>G MANE Select	NP_877437.2:p.Leu181Ter
NM_001164674.2:c.467T>G	NP_001158146.1:p.Leu156Ter
NM_001164675.2:c.542T>G	NP_001158147.1:p.Leu181Ter