Canonical Allele Identifier: CA2839705
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302164C>T
GRCh37 chr4:g.6303891C>T
Revel Score:
ENST00000503569 0.303
ENST00000226760 (MANE Select) 0.303
ENST00000540337 0.303
gnomAD v2:
4:6303891 C / T
gnomAD v3:
4:6302164 C / T
gnomAD v4:
chr4-6302164-C-T
Joint Max Group AF 0.00049974 (EAS)
Genomes Max Group AF 0.00028002 (AFR)
Exomes Max Group AF 0.00050074 (EAS)
ClinVar RCV:
RCV000218719
RCV001393083
ClinVar Variation:
229641
dbSNP:
369107336
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302164C>T , CM000666.2:g.6302164C>T GRCh38
NC_000004.11:g.6303891C>T , CM000666.1:g.6303891C>T GRCh37
NC_000004.10:g.6354792C>T NCBI36
NG_011700.1:g.37315C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2405C>T ENSP00000507852.1:p.Ser802Leu
ENST00000683395.1:c.2346C>T
ENST00000684087.1:c.2369C>T ENSP00000506978.1:p.Ser790Leu
ENST00000506362.2:c.2120C>T ENSP00000424103.2:p.Ser707Leu
ENST00000673991.1:c.2405C>T ENSP00000501033.1:p.Ser802Leu
ENST00000226760.5:c.2369C>T MANE Select ENSP00000226760.1:p.Ser790Leu
ENST00000503569.5:c.2369C>T ENSP00000423337.1:p.Ser790Leu
ENST00000507765.1:n.2554C>T
NM_001145853.1:c.2369C>T NP_001139325.1:p.Ser790Leu
NM_006005.3:c.2369C>T MANE Select NP_005996.2:p.Ser790Leu
XM_017008586.1:c.2378C>T XP_016864075.1:p.Ser793Leu
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