Canonical Allele Identifier: CA253188
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6301739G>A
GRCh37 chr4:g.6303466G>A
gnomAD v2:
4:6303466 G / A
gnomAD v3:
4:6301739 G / A
gnomAD v4:
chr4-6301739-G-A
Joint Max Group AF 0.00001883 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000183 (NFE)
ClinVar RCV:
RCV000004769
RCV003114176
ClinVar Variation:
4511
dbSNP:
104893879
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301739G>A , CM000666.2:g.6301739G>A GRCh38
NC_000004.11:g.6303466G>A , CM000666.1:g.6303466G>A GRCh37
NC_000004.10:g.6354367G>A NCBI36
NG_011700.1:g.36890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1980G>A ENSP00000507852.1:p.Trp660Ter
ENST00000683395.1:c.1921G>A
ENST00000684087.1:c.1944G>A ENSP00000506978.1:p.Trp648Ter
ENST00000506362.2:c.1695G>A ENSP00000424103.2:p.Trp565Ter
ENST00000673642.1:c.1603G>A ENSP00000501242.1:n.1603G>A
ENST00000673991.1:c.1980G>A ENSP00000501033.1:p.Trp660Ter
ENST00000226760.5:c.1944G>A MANE Select ENSP00000226760.1:p.Trp648Ter
ENST00000503569.5:c.1944G>A ENSP00000423337.1:p.Trp648Ter
ENST00000507765.1:n.2129G>A
NM_001145853.1:c.1944G>A NP_001139325.1:p.Trp648Ter
NM_006005.3:c.1944G>A MANE Select NP_005996.2:p.Trp648Ter
XM_017008586.1:c.1953G>A XP_016864075.1:p.Trp651Ter
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