Canonical Allele Identifier: CA2839450

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301490C>T , CM000666.2:g.6301490C>T	GRCh38
NC_000004.11:g.6303217C>T , CM000666.1:g.6303217C>T	GRCh37
NC_000004.10:g.6354118C>T	NCBI36
NG_011700.1:g.36641C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1695C>T MANE Select	NP_005996.2:p.Leu565=
ENST00000226760.5:c.1695C>T MANE Select	ENSP00000226760.1:p.Leu565=
NM_001145853.1:c.1695C>T	NP_001139325.1:p.Leu565=
ENST00000503569.5:c.1695C>T	ENSP00000423337.1:p.Leu565=
ENST00000506362.2:c.1446C>T	ENSP00000424103.2:p.Leu482=
ENST00000507765.1:n.1880C>T
ENST00000673642.1:c.1354C>T	ENSP00000501242.1:n.1354C>T
ENST00000673991.1:c.1731C>T	ENSP00000501033.1:p.Leu577=
ENST00000682275.1:c.1731C>T	ENSP00000507852.1:p.Leu577=
ENST00000683395.1:c.1672C>T
ENST00000684087.1:c.1695C>T	ENSP00000506978.1:p.Leu565=
XM_017008586.1:c.1704C>T	XP_016864075.1:p.Leu568=