Canonical Allele Identifier: CA68773964

Gene: SUMF1

Linked Data

• dbSNP Id: rs529072329
• gnomAD v3: 3-4334390-T-A
• gnomAD v4: 3-4334390-T-A
• MyVariant Identifiers: chr3:g.4376074T>A (hg19) ; chr3:g.4334390T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4334390T>A , CM000665.2:g.4334390T>A	GRCh38
NC_000003.11:g.4376074T>A , CM000665.1:g.4376074T>A	GRCh37
NC_000003.10:g.4351074T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448413.5:c.1014+41940A>T	ENSP00000404384.1:n.1014+41940A>T
XM_011533623.1:c.1014+41940A>T	XP_011531925.1:n.1014+41940A>T
XM_011533624.1:c.1014+41940A>T	XP_011531926.1:n.1014+41940A>T
XM_011533625.1:c.1015-29788A>T	XP_011531927.1:n.1015-29788A>T
XM_011533624.3:c.1014+41940A>T	XP_011531926.1:n.1014+41940A>T
XM_011533625.3:c.1015-29788A>T	XP_011531927.1:n.1015-29788A>T
XM_017006252.2:c.954+76475A>T	XP_016861741.1:n.954+76475A>T
XM_017006253.1:c.939+41940A>T	XP_016861742.1:n.939+41940A>T
XM_017006254.2:c.1014+41940A>T	XP_016861743.1:n.1014+41940A>T
XM_017006255.2:c.1015-22887A>T	XP_016861744.1:n.1015-22887A>T