Canonical Allele Identifier: CA356169660
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6277564A>T , CM000666.2:g.6277564A>T GRCh38
NC_000004.11:g.6279291A>T , CM000666.1:g.6279291A>T GRCh37
NC_000004.10:g.6330192A>T NCBI36
NG_011700.1:g.12715A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000506588.6:n.279A>T
ENST00000682059.1:c.109A>T ENSP00000507988.1:p.Arg37Trp
ENST00000682275.1:c.109A>T ENSP00000507852.1:p.Arg37Trp
ENST00000683395.1:c.99A>T
ENST00000684054.1:c.109A>T ENSP00000507120.1:p.Arg37Trp
ENST00000684087.1:c.109A>T ENSP00000506978.1:p.Arg37Trp
ENST00000684700.1:c.109A>T ENSP00000507806.1:p.Arg37Trp
ENST00000506362.2:c.-18+7550A>T ENSP00000424103.2:n.-18+7550A>T
ENST00000673991.1:c.109A>T ENSP00000501033.1:p.Arg37Trp
ENST00000674051.1:c.66+43A>T ENSP00000501083.1:n.66+43A>T
ENST00000226760.5:c.109A>T MANE Select ENSP00000226760.1:p.Arg37Trp
ENST00000503569.5:c.109A>T ENSP00000423337.1:p.Arg37Trp
ENST00000506588.5:n.279A>T
NM_001145853.1:c.109A>T NP_001139325.1:p.Arg37Trp
NM_006005.3:c.109A>T MANE Select NP_005996.2:p.Arg37Trp
XM_017008586.1:c.118A>T XP_016864075.1:p.Arg40Trp