Canonical Allele Identifier: CA1435773761
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301498T= , CM000666.2:g.6301498T= GRCh38
NC_000004.11:g.6303225T= , CM000666.1:g.6303225T= GRCh37
NC_000004.10:g.6354126T= NCBI36
NG_011700.1:g.36649T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1739T= ENSP00000507852.1:p.Phe580=
ENST00000683395.1:c.1680T=
ENST00000684087.1:c.1703T= ENSP00000506978.1:p.Phe568=
ENST00000506362.2:c.1454T= ENSP00000424103.2:p.Phe485=
ENST00000673642.1:c.1362T= ENSP00000501242.1:n.1362T=
ENST00000673991.1:c.1739T= ENSP00000501033.1:p.Phe580=
ENST00000226760.5:c.1703T= MANE Select ENSP00000226760.1:p.Phe568=
ENST00000503569.5:c.1703T= ENSP00000423337.1:p.Phe568=
ENST00000507765.1:n.1888T=
NM_001145853.1:c.1703T= NP_001139325.1:p.Phe568=
NM_006005.3:c.1703T= MANE Select NP_005996.2:p.Phe568=
XM_017008586.1:c.1712T= XP_016864075.1:p.Phe571=