Canonical Allele Identifier: CA15277689
Gene: SUMF1 HGNC NCBI
dbSNP:
2587949
gnomAD v2:
3:4223616 C / G
gnomAD v3:
3:4181932 C / G
gnomAD v4:
chr3-4181932-C-G
Joint Max Group AF 0.5642373 (EAS)
Genomes Max Group AF 0.5642373 (EAS)
MyVariant.info:
GRCh38 chr3:g.4181932C>G
GRCh37 chr3:g.4223616C>G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4181932C>G , CM000665.2:g.4181932C>G GRCh38
NC_000003.11:g.4223616C>G , CM000665.1:g.4223616C>G GRCh37
NC_000003.10:g.4198616C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000448413.5:c.1015-113187G>C ENSP00000404384.1:n.1015-113187G>C
XM_011533623.1:c.1015-113187G>C XP_011531925.1:n.1015-113187G>C
XM_011533624.1:c.1015-113187G>C XP_011531926.1:n.1015-113187G>C
XR_940549.1:n.106-17987G>C
XM_011533624.3:c.1015-113187G>C XP_011531926.1:n.1015-113187G>C
XM_017006252.2:c.955-113187G>C XP_016861741.1:n.955-113187G>C
XM_017006253.1:c.940-113187G>C XP_016861742.1:n.940-113187G>C
XM_017006254.2:c.1015-113187G>C XP_016861743.1:n.1015-113187G>C
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