Canonical Allele Identifier: CA91796902

Gene: WFS1

Linked Data

• dbSNP Id: rs375880230
• gnomAD v2: 4-6303697-C-T
• gnomAD v4: 4-6301970-C-T
• MyVariant Identifiers: chr4:g.6303697C>T (hg19) ; chr4:g.6301970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301970C>T , CM000666.2:g.6301970C>T	GRCh38
NC_000004.11:g.6303697C>T , CM000666.1:g.6303697C>T	GRCh37
NC_000004.10:g.6354598C>T	NCBI36
NG_011700.1:g.37121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2211C>T	ENSP00000507852.1:p.Phe737=
ENST00000683395.1:c.2152C>T
ENST00000684087.1:c.2175C>T	ENSP00000506978.1:p.Phe725=
ENST00000506362.2:c.1926C>T	ENSP00000424103.2:p.Phe642=
ENST00000673642.1:c.1834C>T	ENSP00000501242.1:n.1834C>T
ENST00000673991.1:c.2211C>T	ENSP00000501033.1:p.Phe737=
ENST00000226760.5:c.2175C>T MANE Select	ENSP00000226760.1:p.Phe725=
ENST00000503569.5:c.2175C>T	ENSP00000423337.1:p.Phe725=
ENST00000507765.1:n.2360C>T
NM_001145853.1:c.2175C>T	NP_001139325.1:p.Phe725=
NM_006005.3:c.2175C>T MANE Select	NP_005996.2:p.Phe725=
XM_017008586.1:c.2184C>T	XP_016864075.1:p.Phe728=