Canonical Allele Identifier: CA2839279

Gene: WFS1

Linked Data

• dbSNP Id: rs1228172050
• ExAC: 4:6302762 T / C
• gnomAD v2: 4-6302762-T-C
• gnomAD v4: 4-6301035-T-C
• MyVariant Identifiers: chr4:g.6302762T>C (hg19) ; chr4:g.6302762_6302765delinsCTCG (hg19) ; chr4:g.6301035T>C (hg38) ; chr4:g.6301035_6301038delinsCTCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301035T>C , CM000666.2:g.6301035T>C	GRCh38
NC_000004.11:g.6302762T>C , CM000666.1:g.6302762T>C	GRCh37
NC_000004.10:g.6353663T>C	NCBI36
NG_011700.1:g.36186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1276T>C	ENSP00000507852.1:p.Phe426Leu
ENST00000683395.1:c.1217T>C
ENST00000684087.1:c.1240T>C	ENSP00000506978.1:p.Phe414Leu
ENST00000506362.2:c.991T>C	ENSP00000424103.2:p.Phe331Leu
ENST00000673642.1:c.899T>C	ENSP00000501242.1:p.Leu300Pro
ENST00000673991.1:c.1276T>C	ENSP00000501033.1:p.Phe426Leu
ENST00000226760.5:c.1240T>C MANE Select	ENSP00000226760.1:p.Phe414Leu
ENST00000503569.5:c.1240T>C	ENSP00000423337.1:p.Phe414Leu
ENST00000507765.1:n.1425T>C
NM_001145853.1:c.1240T>C	NP_001139325.1:p.Phe414Leu
NM_006005.3:c.1240T>C MANE Select	NP_005996.2:p.Phe414Leu
XM_017008586.1:c.1249T>C	XP_016864075.1:p.Phe417Leu