Canonical Allele Identifier: CA540794855

Gene: SUMF1

Linked Data

• dbSNP Id: rs1263417131
• gnomAD v2: 3-4376082-G-A
• MyVariant Identifiers: chr3:g.4376082G>A (hg19) ; chr3:g.4334398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4334398G>A , CM000665.2:g.4334398G>A	GRCh38
NC_000003.11:g.4376082G>A , CM000665.1:g.4376082G>A	GRCh37
NC_000003.10:g.4351082G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448413.5:c.1014+41932C>T	ENSP00000404384.1:n.1014+41932C>T
XM_011533623.1:c.1014+41932C>T	XP_011531925.1:n.1014+41932C>T
XM_011533624.1:c.1014+41932C>T	XP_011531926.1:n.1014+41932C>T
XM_011533625.1:c.1015-29796C>T	XP_011531927.1:n.1015-29796C>T
XM_011533624.3:c.1014+41932C>T	XP_011531926.1:n.1014+41932C>T
XM_011533625.3:c.1015-29796C>T	XP_011531927.1:n.1015-29796C>T
XM_017006252.2:c.954+76467C>T	XP_016861741.1:n.954+76467C>T
XM_017006253.1:c.939+41932C>T	XP_016861742.1:n.939+41932C>T
XM_017006254.2:c.1014+41932C>T	XP_016861743.1:n.1014+41932C>T
XM_017006255.2:c.1015-22895C>T	XP_016861744.1:n.1015-22895C>T