Canonical Allele Identifier: CA356172279

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1352912
• ClinVar RCV Id: RCV002040035
• dbSNP Id: rs1730476996
• MyVariant Identifiers: chr4:g.6293685A>G (hg19) ; chr4:g.6291958A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291958A>G , CM000666.2:g.6291958A>G	GRCh38
NC_000004.11:g.6293685A>G , CM000666.1:g.6293685A>G	GRCh37
NC_000004.10:g.6344586A>G	NCBI36
NG_011700.1:g.27109A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.673A>G	ENSP00000507852.1:p.Lys225Glu
ENST00000683395.1:c.650A>G
ENST00000684087.1:c.673A>G	ENSP00000506978.1:p.Lys225Glu
ENST00000506362.2:c.424A>G	ENSP00000424103.2:p.Lys142Glu
ENST00000673642.1:c.472A>G	ENSP00000501242.1:p.Lys158Glu
ENST00000673991.1:c.673A>G	ENSP00000501033.1:p.Lys225Glu
ENST00000226760.5:c.673A>G MANE Select	ENSP00000226760.1:p.Lys225Glu
ENST00000503569.5:c.673A>G	ENSP00000423337.1:p.Lys225Glu
ENST00000506362.1:c.270A>G
ENST00000507765.1:n.858A>G
NM_001145853.1:c.673A>G	NP_001139325.1:p.Lys225Glu
NM_006005.3:c.673A>G MANE Select	NP_005996.2:p.Lys225Glu
XM_017008586.1:c.682A>G	XP_016864075.1:p.Lys228Glu