Canonical Allele Identifier: CA2230522

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 1496993
• ClinVar RCV Id: RCV002019318
• dbSNP Id: rs147775545
• ExAC: 3:4459814 G / T
• gnomAD v2: 3-4459814-G-T
• gnomAD v3: 3-4418130-G-T
• gnomAD v4: 3-4418130-G-T
• MyVariant Identifiers: chr3:g.4459814G>T (hg19) ; chr3:g.4418130G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4418130G>T , CM000665.2:g.4418130G>T	GRCh38
NC_000003.11:g.4459814G>T , CM000665.1:g.4459814G>T	GRCh37
NC_000003.10:g.4434814G>T	NCBI36
NG_016225.1:g.54153C>A
NG_016225.2:g.54153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.605C>A MANE Select	ENSP00000272902.5:p.Pro202Gln
ENST00000272902.9:c.605C>A	ENSP00000272902.5:p.Pro202Gln
ENST00000383843.9:c.530C>A	ENSP00000373355.5:p.Pro177Gln
ENST00000405420.2:c.605C>A	ENSP00000384977.2:p.Pro202Gln
ENST00000448413.5:c.605C>A	ENSP00000404384.1:p.Pro202Gln
ENST00000458465.6:c.445-7152C>A	ENSP00000410060.2:n.445-7152C>A
NM_001164674.1:c.530C>A	NP_001158146.1:p.Pro177Gln
NM_001164675.1:c.605C>A	NP_001158147.1:p.Pro202Gln
NM_182760.3:c.605C>A	NP_877437.2:p.Pro202Gln
XM_011533623.1:c.605C>A	XP_011531925.1:p.Pro202Gln
XM_011533624.1:c.605C>A	XP_011531926.1:p.Pro202Gln
XM_011533625.1:c.605C>A	XP_011531927.1:p.Pro202Gln
XM_011533626.1:c.605C>A	XP_011531928.1:p.Pro202Gln
XM_011533624.3:c.605C>A	XP_011531926.1:p.Pro202Gln
XM_011533625.3:c.605C>A	XP_011531927.1:p.Pro202Gln
XM_011533626.3:c.605C>A	XP_011531928.1:p.Pro202Gln
XM_017006252.2:c.605C>A	XP_016861741.1:p.Pro202Gln
XM_017006253.1:c.530C>A	XP_016861742.1:p.Pro177Gln
XM_017006254.2:c.605C>A	XP_016861743.1:p.Pro202Gln
XM_017006255.2:c.605C>A	XP_016861744.1:p.Pro202Gln
NM_182760.4:c.605C>A MANE Select	NP_877437.2:p.Pro202Gln
NM_001164674.2:c.530C>A	NP_001158146.1:p.Pro177Gln
NM_001164675.2:c.605C>A	NP_001158147.1:p.Pro202Gln