Canonical Allele Identifier: CA356173927

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1298954
• ClinVar RCV Id: RCV001727284
• dbSNP Id: rs2109125046
• MyVariant Identifiers: chr4:g.6302462T>C (hg19) ; chr4:g.6300735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300735T>C , CM000666.2:g.6300735T>C	GRCh38
NC_000004.11:g.6302462T>C , CM000666.1:g.6302462T>C	GRCh37
NC_000004.10:g.6353363T>C	NCBI36
NG_011700.1:g.35886T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.976T>C	ENSP00000507852.1:p.Trp326Arg
ENST00000683395.1:c.917T>C
ENST00000684087.1:c.940T>C	ENSP00000506978.1:p.Trp314Arg
ENST00000506362.2:c.691T>C	ENSP00000424103.2:p.Trp231Arg
ENST00000673642.1:c.661-62T>C	ENSP00000501242.1:n.661-62T>C
ENST00000673991.1:c.976T>C	ENSP00000501033.1:p.Trp326Arg
ENST00000226760.5:c.940T>C MANE Select	ENSP00000226760.1:p.Trp314Arg
ENST00000503569.5:c.940T>C	ENSP00000423337.1:p.Trp314Arg
ENST00000506362.1:c.573T>C
ENST00000507765.1:n.1125T>C
ENST00000513395.1:n.498T>C
NM_001145853.1:c.940T>C	NP_001139325.1:p.Trp314Arg
NM_006005.3:c.940T>C MANE Select	NP_005996.2:p.Trp314Arg
XM_017008586.1:c.949T>C	XP_016864075.1:p.Trp317Arg