Canonical Allele Identifier: CA2839471

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1904438
• ClinVar RCV Id: RCV002577688
• dbSNP Id: rs377677092
• ExAC: 4:6303266 G / T
• gnomAD v2: 4-6303266-G-T
• gnomAD v3: 4-6301539-G-T
• gnomAD v4: 4-6301539-G-T
• MyVariant Identifiers: chr4:g.6303266G>T (hg19) ; chr4:g.6301539G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301539G>T , CM000666.2:g.6301539G>T	GRCh38
NC_000004.11:g.6303266G>T , CM000666.1:g.6303266G>T	GRCh37
NC_000004.10:g.6354167G>T	NCBI36
NG_011700.1:g.36690G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1780G>T	ENSP00000507852.1:p.Val594Leu
ENST00000683395.1:c.1721G>T
ENST00000684087.1:c.1744G>T	ENSP00000506978.1:p.Val582Leu
ENST00000506362.2:c.1495G>T	ENSP00000424103.2:p.Val499Leu
ENST00000673642.1:c.1403G>T	ENSP00000501242.1:n.1403G>T
ENST00000673991.1:c.1780G>T	ENSP00000501033.1:p.Val594Leu
ENST00000226760.5:c.1744G>T MANE Select	ENSP00000226760.1:p.Val582Leu
ENST00000503569.5:c.1744G>T	ENSP00000423337.1:p.Val582Leu
ENST00000507765.1:n.1929G>T
NM_001145853.1:c.1744G>T	NP_001139325.1:p.Val582Leu
NM_006005.3:c.1744G>T MANE Select	NP_005996.2:p.Val582Leu
XM_017008586.1:c.1753G>T	XP_016864075.1:p.Val585Leu