Canonical Allele Identifier: CA1435772076
Community Standard Title: NM_006005.3(WFS1):c.2141A= (p.Asn714=)
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301936A= , CM000666.2:g.6301936A= GRCh38
NC_000004.11:g.6303663A= , CM000666.1:g.6303663A= GRCh37
NC_000004.10:g.6354564A= NCBI36
NG_011700.1:g.37087A=

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.2141A= MANE Select NP_005996.2:p.Asn714=
ENST00000226760.5:c.2141A= MANE Select ENSP00000226760.1:p.Asn714=
NM_001145853.1:c.2141A= NP_001139325.1:p.Asn714=
ENST00000503569.5:c.2141A= ENSP00000423337.1:p.Asn714=
ENST00000506362.2:c.1892A= ENSP00000424103.2:p.Asn631=
ENST00000507765.1:n.2326A=
ENST00000673642.1:c.1800A= ENSP00000501242.1:n.1800A=
ENST00000673991.1:c.2177A= ENSP00000501033.1:p.Asn726=
ENST00000682275.1:c.2177A= ENSP00000507852.1:p.Asn726=
ENST00000683395.1:c.2118A=
ENST00000684087.1:c.2141A= ENSP00000506978.1:p.Asn714=
XM_017008586.1:c.2150A= XP_016864075.1:p.Asn717=