Canonical Allele Identifier: CA319834
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302049G>T
GRCh37 chr4:g.6303776G>T
gnomAD v2:
4:6303776 G / T
gnomAD v3:
4:6302049 G / T
gnomAD v4:
chr4-6302049-G-T
Joint Max Group AF 0.00005958 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00005797 (NFE)
ClinVar RCV:
RCV000195490
RCV001730586
ClinVar Variation:
215399
dbSNP:
201239579
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302049G>T , CM000666.2:g.6302049G>T GRCh38
NC_000004.11:g.6303776G>T , CM000666.1:g.6303776G>T GRCh37
NC_000004.10:g.6354677G>T NCBI36
NG_011700.1:g.37200G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2290G>T ENSP00000507852.1:p.Glu764Ter
ENST00000683395.1:c.2231G>T
ENST00000684087.1:c.2254G>T ENSP00000506978.1:p.Glu752Ter
ENST00000506362.2:c.2005G>T ENSP00000424103.2:p.Glu669Ter
ENST00000673642.1:c.1913G>T ENSP00000501242.1:n.1913G>T
ENST00000673991.1:c.2290G>T ENSP00000501033.1:p.Glu764Ter
ENST00000226760.5:c.2254G>T MANE Select ENSP00000226760.1:p.Glu752Ter
ENST00000503569.5:c.2254G>T ENSP00000423337.1:p.Glu752Ter
ENST00000507765.1:n.2439G>T
NM_001145853.1:c.2254G>T NP_001139325.1:p.Glu752Ter
NM_006005.3:c.2254G>T MANE Select NP_005996.2:p.Glu752Ter
XM_017008586.1:c.2263G>T XP_016864075.1:p.Glu755Ter
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