Canonical Allele Identifier: CA10616420
Gene: SUMF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345293
ClinVar RCV Id: RCV000374925
dbSNP Id: rs79031951
gnomAD v2: 3-4403023-G-A
gnomAD v3: 3-4361339-G-A
gnomAD v4: 3-4361339-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4361339G>A , CM000665.2:g.4361339G>A GRCh38
NC_000003.11:g.4403023G>A , CM000665.1:g.4403023G>A GRCh37
NC_000003.10:g.4378023G>A NCBI36
NG_016225.1:g.110944C>T
NG_016225.2:g.110944C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272902.10:c.*805C>T MANE Select ENSP00000272902.5:n.*805C>T
ENST00000272902.9:c.*805C>T ENSP00000272902.5:n.*805C>T
ENST00000448413.5:c.1014+14991C>T ENSP00000404384.1:n.1014+14991C>T
NM_001164674.1:c.*805C>T NP_001158146.1:n.*805C>T
NM_001164675.1:c.*805C>T NP_001158147.1:n.*805C>T
NM_182760.3:c.*805C>T NP_877437.2:n.*805C>T
XM_011533623.1:c.1014+14991C>T XP_011531925.1:n.1014+14991C>T
XM_011533624.1:c.1014+14991C>T XP_011531926.1:n.1014+14991C>T
XM_011533625.1:c.1014+14991C>T XP_011531927.1:n.1014+14991C>T
XM_011533626.1:c.1015-9708C>T XP_011531928.1:n.1015-9708C>T
XM_011533624.3:c.1014+14991C>T XP_011531926.1:n.1014+14991C>T
XM_011533625.3:c.1014+14991C>T XP_011531927.1:n.1014+14991C>T
XM_011533626.3:c.1015-9708C>T XP_011531928.1:n.1015-9708C>T
XM_017006252.2:c.954+49526C>T XP_016861741.1:n.954+49526C>T
XM_017006253.1:c.939+14991C>T XP_016861742.1:n.939+14991C>T
XM_017006254.2:c.1014+14991C>T XP_016861743.1:n.1014+14991C>T
XM_017006255.2:c.1014+14991C>T XP_016861744.1:n.1014+14991C>T
NM_182760.4:c.*805C>T MANE Select NP_877437.2:n.*805C>T
NM_001164674.2:c.*805C>T NP_001158146.1:n.*805C>T
NM_001164675.2:c.*805C>T NP_001158147.1:n.*805C>T