Canonical Allele Identifier: CA10618476

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 345294
• ClinVar RCV Id: RCV000280888
• dbSNP Id: rs886058513
• MyVariant Identifiers: chr3:g.4403136T>C (hg19) ; chr3:g.4361452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4361452T>C , CM000665.2:g.4361452T>C	GRCh38
NC_000003.11:g.4403136T>C , CM000665.1:g.4403136T>C	GRCh37
NC_000003.10:g.4378136T>C	NCBI36
NG_016225.1:g.110831A>G
NG_016225.2:g.110831A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.*692A>G MANE Select	ENSP00000272902.5:n.*692A>G
ENST00000272902.9:c.*692A>G	ENSP00000272902.5:n.*692A>G
ENST00000448413.5:c.1014+14878A>G	ENSP00000404384.1:n.1014+14878A>G
NM_001164674.1:c.*692A>G	NP_001158146.1:n.*692A>G
NM_001164675.1:c.*692A>G	NP_001158147.1:n.*692A>G
NM_182760.3:c.*692A>G	NP_877437.2:n.*692A>G
XM_011533623.1:c.1014+14878A>G	XP_011531925.1:n.1014+14878A>G
XM_011533624.1:c.1014+14878A>G	XP_011531926.1:n.1014+14878A>G
XM_011533625.1:c.1014+14878A>G	XP_011531927.1:n.1014+14878A>G
XM_011533626.1:c.1015-9821A>G	XP_011531928.1:n.1015-9821A>G
XM_011533624.3:c.1014+14878A>G	XP_011531926.1:n.1014+14878A>G
XM_011533625.3:c.1014+14878A>G	XP_011531927.1:n.1014+14878A>G
XM_011533626.3:c.1015-9821A>G	XP_011531928.1:n.1015-9821A>G
XM_017006252.2:c.954+49413A>G	XP_016861741.1:n.954+49413A>G
XM_017006253.1:c.939+14878A>G	XP_016861742.1:n.939+14878A>G
XM_017006254.2:c.1014+14878A>G	XP_016861743.1:n.1014+14878A>G
XM_017006255.2:c.1014+14878A>G	XP_016861744.1:n.1014+14878A>G
NM_182760.4:c.*692A>G MANE Select	NP_877437.2:n.*692A>G
NM_001164674.2:c.*692A>G	NP_001158146.1:n.*692A>G
NM_001164675.2:c.*692A>G	NP_001158147.1:n.*692A>G