Canonical Allele Identifier: CA438368451

Gene: WFS1

Linked Data

• dbSNP Id: rs1269881078
• gnomAD v2: 4-6303586-C-T
• gnomAD v4: 4-6301859-C-T
• MyVariant Identifiers: chr4:g.6303586C>T (hg19) ; chr4:g.6301859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301859C>T , CM000666.2:g.6301859C>T	GRCh38
NC_000004.11:g.6303586C>T , CM000666.1:g.6303586C>T	GRCh37
NC_000004.10:g.6354487C>T	NCBI36
NG_011700.1:g.37010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2100C>T	ENSP00000507852.1:p.Ile700=
ENST00000683395.1:c.2041C>T
ENST00000684087.1:c.2064C>T	ENSP00000506978.1:p.Ile688=
ENST00000506362.2:c.1815C>T	ENSP00000424103.2:p.Ile605=
ENST00000673642.1:c.1723C>T	ENSP00000501242.1:n.1723C>T
ENST00000673991.1:c.2100C>T	ENSP00000501033.1:p.Ile700=
ENST00000226760.5:c.2064C>T MANE Select	ENSP00000226760.1:p.Ile688=
ENST00000503569.5:c.2064C>T	ENSP00000423337.1:p.Ile688=
ENST00000507765.1:n.2249C>T
NM_001145853.1:c.2064C>T	NP_001139325.1:p.Ile688=
NM_006005.3:c.2064C>T MANE Select	NP_005996.2:p.Ile688=
XM_017008586.1:c.2073C>T	XP_016864075.1:p.Ile691=