Canonical Allele Identifier: CA320964
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6301574G>C
GRCh37 chr4:g.6303301G>C
Revel Score:
ENST00000503569 0.270
ENST00000226760 (MANE Select) 0.270
gnomAD v2:
4:6303301 G / C
gnomAD v3:
4:6301574 G / C
gnomAD v4:
chr4-6301574-G-C
Joint Max Group AF 0.00188664 (AFR)
Genomes Max Group AF 0.00178136 (AFR)
Exomes Max Group AF 0.00177768 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301574G>C , CM000666.2:g.6301574G>C GRCh38
NC_000004.11:g.6303301G>C , CM000666.1:g.6303301G>C GRCh37
NC_000004.10:g.6354202G>C NCBI36
NG_011700.1:g.36725G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1815G>C ENSP00000507852.1:p.Glu605Asp
ENST00000683395.1:c.1756G>C
ENST00000684087.1:c.1779G>C ENSP00000506978.1:p.Glu593Asp
ENST00000506362.2:c.1530G>C ENSP00000424103.2:p.Glu510Asp
ENST00000673642.1:c.1438G>C ENSP00000501242.1:n.1438G>C
ENST00000673991.1:c.1815G>C ENSP00000501033.1:p.Glu605Asp
ENST00000226760.5:c.1779G>C MANE Select ENSP00000226760.1:p.Glu593Asp
ENST00000503569.5:c.1779G>C ENSP00000423337.1:p.Glu593Asp
ENST00000507765.1:n.1964G>C
NM_001145853.1:c.1779G>C NP_001139325.1:p.Glu593Asp
NM_006005.3:c.1779G>C MANE Select NP_005996.2:p.Glu593Asp
XM_017008586.1:c.1788G>C XP_016864075.1:p.Glu596Asp
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