Canonical Allele Identifier: CA907253339

Gene: SUMF1

Linked Data

• dbSNP Id: rs1251745893
• gnomAD v3: 3-4334285-T-G
• gnomAD v4: 3-4334285-T-G
• MyVariant Identifiers: chr3:g.4375969T>G (hg19) ; chr3:g.4334285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4334285T>G , CM000665.2:g.4334285T>G	GRCh38
NC_000003.11:g.4375969T>G , CM000665.1:g.4375969T>G	GRCh37
NC_000003.10:g.4350969T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448413.5:c.1014+42045A>C	ENSP00000404384.1:n.1014+42045A>C
XM_011533623.1:c.1014+42045A>C	XP_011531925.1:n.1014+42045A>C
XM_011533624.1:c.1014+42045A>C	XP_011531926.1:n.1014+42045A>C
XM_011533625.1:c.1015-29683A>C	XP_011531927.1:n.1015-29683A>C
XM_011533624.3:c.1014+42045A>C	XP_011531926.1:n.1014+42045A>C
XM_011533625.3:c.1015-29683A>C	XP_011531927.1:n.1015-29683A>C
XM_017006252.2:c.954+76580A>C	XP_016861741.1:n.954+76580A>C
XM_017006253.1:c.939+42045A>C	XP_016861742.1:n.939+42045A>C
XM_017006254.2:c.1014+42045A>C	XP_016861743.1:n.1014+42045A>C
XM_017006255.2:c.1015-22782A>C	XP_016861744.1:n.1015-22782A>C