Canonical Allele Identifier: CA180501
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6300712T>C
GRCh37 chr4:g.6302439T>C
Revel Score:
ENST00000503569 0.258
ENST00000226760 (MANE Select) 0.258
ENST00000506362 0.141
gnomAD v2:
4:6302439 T / C
gnomAD v3:
4:6300712 T / C
gnomAD v4:
chr4-6300712-T-C
Joint Max Group AF 0.01262344 (AFR)
Genomes Max Group AF 0.01198657 (AFR)
Exomes Max Group AF 0.01278841 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300712T>C , CM000666.2:g.6300712T>C GRCh38
NC_000004.11:g.6302439T>C , CM000666.1:g.6302439T>C GRCh37
NC_000004.10:g.6353340T>C NCBI36
NG_011700.1:g.35863T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.953T>C ENSP00000507852.1:p.Met318Thr
ENST00000683395.1:c.894T>C
ENST00000684087.1:c.917T>C ENSP00000506978.1:p.Met306Thr
ENST00000506362.2:c.668T>C ENSP00000424103.2:p.Met223Thr
ENST00000673642.1:c.661-85T>C ENSP00000501242.1:n.661-85T>C
ENST00000673991.1:c.953T>C ENSP00000501033.1:p.Met318Thr
ENST00000226760.5:c.917T>C MANE Select ENSP00000226760.1:p.Met306Thr
ENST00000503569.5:c.917T>C ENSP00000423337.1:p.Met306Thr
ENST00000506362.1:c.550T>C
ENST00000507765.1:n.1102T>C
ENST00000513395.1:n.475T>C
NM_001145853.1:c.917T>C NP_001139325.1:p.Met306Thr
NM_006005.3:c.917T>C MANE Select NP_005996.2:p.Met306Thr
XM_017008586.1:c.926T>C XP_016864075.1:p.Met309Thr
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