Canonical Allele Identifier: CA2839773
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302344G>A
GRCh37 chr4:g.6304071G>A
Revel Score:
ENST00000503569 0.945
ENST00000226760 (MANE Select) 0.945
ENST00000540337 0.945
gnomAD v2:
4:6304071 G / A
gnomAD v3:
4:6302344 G / A
gnomAD v4:
chr4-6302344-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000377710
RCV003147443
ClinVar Variation:
287170
dbSNP:
748404777
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302344G>A , CM000666.2:g.6302344G>A GRCh38
NC_000004.11:g.6304071G>A , CM000666.1:g.6304071G>A GRCh37
NC_000004.10:g.6354972G>A NCBI36
NG_011700.1:g.37495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2585G>A ENSP00000507852.1:p.Cys862Tyr
ENST00000683395.1:c.2526G>A
ENST00000684087.1:c.2549G>A ENSP00000506978.1:p.Cys850Tyr
ENST00000506362.2:c.2300G>A ENSP00000424103.2:p.Cys767Tyr
ENST00000673991.1:c.2585G>A ENSP00000501033.1:p.Cys862Tyr
ENST00000226760.5:c.2549G>A MANE Select ENSP00000226760.1:p.Cys850Tyr
ENST00000503569.5:c.2549G>A ENSP00000423337.1:p.Cys850Tyr
ENST00000507765.1:n.2734G>A
NM_001145853.1:c.2549G>A NP_001139325.1:p.Cys850Tyr
NM_006005.3:c.2549G>A MANE Select NP_005996.2:p.Cys850Tyr
XM_017008586.1:c.2558G>A XP_016864075.1:p.Cys853Tyr
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