Canonical Allele Identifier: CA356172548

Gene: WFS1

Linked Data

• dbSNP Id: rs1730592690
• gnomAD v4: 4-6295118-T-C
• MyVariant Identifiers: chr4:g.6296845T>C (hg19) ; chr4:g.6295118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6295118T>C , CM000666.2:g.6295118T>C	GRCh38
NC_000004.11:g.6296845T>C , CM000666.1:g.6296845T>C	GRCh37
NC_000004.10:g.6347746T>C	NCBI36
NG_011700.1:g.30269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.826T>C	ENSP00000507852.1:p.Phe276Leu
ENST00000683395.1:c.767T>C
ENST00000684087.1:c.790T>C	ENSP00000506978.1:p.Phe264Leu
ENST00000506362.2:c.541T>C	ENSP00000424103.2:p.Phe181Leu
ENST00000673642.1:c.589T>C	ENSP00000501242.1:p.Phe197Leu
ENST00000673991.1:c.826T>C	ENSP00000501033.1:p.Phe276Leu
ENST00000226760.5:c.790T>C MANE Select	ENSP00000226760.1:p.Phe264Leu
ENST00000503569.5:c.790T>C	ENSP00000423337.1:p.Phe264Leu
ENST00000506362.1:c.423T>C
ENST00000507765.1:n.975T>C
ENST00000513395.1:n.348T>C
NM_001145853.1:c.790T>C	NP_001139325.1:p.Phe264Leu
NM_006005.3:c.790T>C MANE Select	NP_005996.2:p.Phe264Leu
XM_017008586.1:c.799T>C	XP_016864075.1:p.Phe267Leu