Canonical Allele Identifier: CA247675
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302175G>A
GRCh37 chr4:g.6303902G>A
Revel Score:
ENST00000503569 0.572
ENST00000226760 (MANE Select) 0.572
ENST00000540337 0.572
gnomAD v2:
4:6303902 G / A
gnomAD v3:
4:6302175 G / A
gnomAD v4:
chr4-6302175-G-A
Joint Max Group AF 0.00233008 (SAS)
Genomes Max Group AF 0.00191612 (SAS)
Exomes Max Group AF 0.00229663 (SAS)
ClinVar RCV:
RCV000724671
RCV003148665
ClinVar Variation:
198836
dbSNP:
201078003
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302175G>A , CM000666.2:g.6302175G>A GRCh38
NC_000004.11:g.6303902G>A , CM000666.1:g.6303902G>A GRCh37
NC_000004.10:g.6354803G>A NCBI36
NG_011700.1:g.37326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2416G>A ENSP00000507852.1:p.Glu806Lys
ENST00000683395.1:c.2357G>A
ENST00000684087.1:c.2380G>A ENSP00000506978.1:p.Glu794Lys
ENST00000506362.2:c.2131G>A ENSP00000424103.2:p.Glu711Lys
ENST00000673991.1:c.2416G>A ENSP00000501033.1:p.Glu806Lys
ENST00000226760.5:c.2380G>A MANE Select ENSP00000226760.1:p.Glu794Lys
ENST00000503569.5:c.2380G>A ENSP00000423337.1:p.Glu794Lys
ENST00000507765.1:n.2565G>A
NM_001145853.1:c.2380G>A NP_001139325.1:p.Glu794Lys
NM_006005.3:c.2380G>A MANE Select NP_005996.2:p.Glu794Lys
XM_017008586.1:c.2389G>A XP_016864075.1:p.Glu797Lys
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