Canonical Allele Identifier: CA2839539
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6301696A>G
GRCh37 chr4:g.6303423A>G
Revel Score:
ENST00000503569 0.787
ENST00000226760 (MANE Select) 0.787
ENST00000540337 0.787
gnomAD v2:
4:6303423 A / G
gnomAD v3:
4:6301696 A / G
gnomAD v4:
chr4-6301696-A-G
Joint Max Group AF 0.00000365 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV003087715
ClinVar Variation:
2160759
dbSNP:
104893882
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301696A>G , CM000666.2:g.6301696A>G GRCh38
NC_000004.11:g.6303423A>G , CM000666.1:g.6303423A>G GRCh37
NC_000004.10:g.6354324A>G NCBI36
NG_011700.1:g.36847A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1937A>G ENSP00000507852.1:p.Lys646Arg
ENST00000683395.1:c.1878A>G
ENST00000684087.1:c.1901A>G ENSP00000506978.1:p.Lys634Arg
ENST00000506362.2:c.1652A>G ENSP00000424103.2:p.Lys551Arg
ENST00000673642.1:c.1560A>G ENSP00000501242.1:n.1560A>G
ENST00000673991.1:c.1937A>G ENSP00000501033.1:p.Lys646Arg
ENST00000226760.5:c.1901A>G MANE Select ENSP00000226760.1:p.Lys634Arg
ENST00000503569.5:c.1901A>G ENSP00000423337.1:p.Lys634Arg
ENST00000507765.1:n.2086A>G
NM_001145853.1:c.1901A>G NP_001139325.1:p.Lys634Arg
NM_006005.3:c.1901A>G MANE Select NP_005996.2:p.Lys634Arg
XM_017008586.1:c.1910A>G XP_016864075.1:p.Lys637Arg
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