Canonical Allele Identifier: CA16133642
Gene: SUMF1 HGNC NCBI
dbSNP:
4685724
gnomAD v2:
3:4035443 T / C
gnomAD v3:
3:3993759 T / C
gnomAD v4:
chr3-3993759-T-C
Joint Max Group AF 0.40249906 (EAS)
Genomes Max Group AF 0.40249906 (EAS)
MyVariant.info:
GRCh38 chr3:g.3993759T>C
GRCh37 chr3:g.4035443T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.3993759T>C , CM000665.2:g.3993759T>C GRCh38
NC_000003.11:g.4035443T>C , CM000665.1:g.4035443T>C GRCh37
NC_000003.10:g.4010443T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000448413.5:c.1191+74810A>G ENSP00000404384.1:n.1191+74810A>G
Search 100 bp 5'
Search 100 bp 3'