Canonical Allele Identifier: CA2839760
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302311T>C
GRCh37 chr4:g.6304038T>C
Revel Score:
ENST00000503569 0.448
ENST00000226760 (MANE Select) 0.448
ENST00000540337 0.448
gnomAD v2:
4:6304038 T / C
gnomAD v4:
chr4-6302311-T-C
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.0000178 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302311T>C , CM000666.2:g.6302311T>C GRCh38
NC_000004.11:g.6304038T>C , CM000666.1:g.6304038T>C GRCh37
NC_000004.10:g.6354939T>C NCBI36
NG_011700.1:g.37462T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2552T>C ENSP00000507852.1:p.Val851Ala
ENST00000683395.1:c.2493T>C
ENST00000684087.1:c.2516T>C ENSP00000506978.1:p.Val839Ala
ENST00000506362.2:c.2267T>C ENSP00000424103.2:p.Val756Ala
ENST00000673991.1:c.2552T>C ENSP00000501033.1:p.Val851Ala
ENST00000226760.5:c.2516T>C MANE Select ENSP00000226760.1:p.Val839Ala
ENST00000503569.5:c.2516T>C ENSP00000423337.1:p.Val839Ala
ENST00000507765.1:n.2701T>C
NM_001145853.1:c.2516T>C NP_001139325.1:p.Val839Ala
NM_006005.3:c.2516T>C MANE Select NP_005996.2:p.Val839Ala
XM_017008586.1:c.2525T>C XP_016864075.1:p.Val842Ala
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