Canonical Allele Identifier: CA91796212

Gene: WFS1

Linked Data

• dbSNP Id: rs558978902
• MyVariant Identifiers: chr4:g.6302469C>T (hg19) ; chr4:g.6300742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300742C>T , CM000666.2:g.6300742C>T	GRCh38
NC_000004.11:g.6302469C>T , CM000666.1:g.6302469C>T	GRCh37
NC_000004.10:g.6353370C>T	NCBI36
NG_011700.1:g.35893C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.983C>T	ENSP00000507852.1:p.Ser328Phe
ENST00000683395.1:c.924C>T
ENST00000684087.1:c.947C>T	ENSP00000506978.1:p.Ser316Phe
ENST00000506362.2:c.698C>T	ENSP00000424103.2:p.Ser233Phe
ENST00000673642.1:c.661-55C>T	ENSP00000501242.1:n.661-55C>T
ENST00000673991.1:c.983C>T	ENSP00000501033.1:p.Ser328Phe
ENST00000226760.5:c.947C>T MANE Select	ENSP00000226760.1:p.Ser316Phe
ENST00000503569.5:c.947C>T	ENSP00000423337.1:p.Ser316Phe
ENST00000506362.1:c.580C>T
ENST00000507765.1:n.1132C>T
ENST00000513395.1:n.505C>T
NM_001145853.1:c.947C>T	NP_001139325.1:p.Ser316Phe
NM_006005.3:c.947C>T MANE Select	NP_005996.2:p.Ser316Phe
XM_017008586.1:c.956C>T	XP_016864075.1:p.Ser319Phe