Canonical Allele Identifier: CA68773859

Gene: SUMF1

Linked Data

• dbSNP Id: rs375725798
• gnomAD v3: 3-4334261-T-C
• gnomAD v4: 3-4334261-T-C
• MyVariant Identifiers: chr3:g.4375945T>C (hg19) ; chr3:g.4334261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4334261T>C , CM000665.2:g.4334261T>C	GRCh38
NC_000003.11:g.4375945T>C , CM000665.1:g.4375945T>C	GRCh37
NC_000003.10:g.4350945T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448413.5:c.1014+42069A>G	ENSP00000404384.1:n.1014+42069A>G
XM_011533623.1:c.1014+42069A>G	XP_011531925.1:n.1014+42069A>G
XM_011533624.1:c.1014+42069A>G	XP_011531926.1:n.1014+42069A>G
XM_011533625.1:c.1015-29659A>G	XP_011531927.1:n.1015-29659A>G
XM_011533624.3:c.1014+42069A>G	XP_011531926.1:n.1014+42069A>G
XM_011533625.3:c.1015-29659A>G	XP_011531927.1:n.1015-29659A>G
XM_017006252.2:c.954+76604A>G	XP_016861741.1:n.954+76604A>G
XM_017006253.1:c.939+42069A>G	XP_016861742.1:n.939+42069A>G
XM_017006254.2:c.1014+42069A>G	XP_016861743.1:n.1014+42069A>G
XM_017006255.2:c.1015-22758A>G	XP_016861744.1:n.1015-22758A>G