Canonical Allele Identifier: CA356173782

Gene: WFS1

Linked Data

• dbSNP Id: rs1560417643
• gnomAD v2: 4-6302391-A-G
• gnomAD v4: 4-6300664-A-G
• MyVariant Identifiers: chr4:g.6302391A>G (hg19) ; chr4:g.6302391_6302400delinsGGTACCCCCT (hg19) ; chr4:g.6300664A>G (hg38) ; chr4:g.6300664_6300673delinsGGTACCCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300664A>G , CM000666.2:g.6300664A>G	GRCh38
NC_000004.11:g.6302391A>G , CM000666.1:g.6302391A>G	GRCh37
NC_000004.10:g.6353292A>G	NCBI36
NG_011700.1:g.35815A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.905A>G	ENSP00000507852.1:p.Lys302Arg
ENST00000683395.1:c.846A>G
ENST00000684087.1:c.869A>G	ENSP00000506978.1:p.Lys290Arg
ENST00000506362.2:c.620A>G	ENSP00000424103.2:p.Lys207Arg
ENST00000673642.1:c.661-133A>G	ENSP00000501242.1:n.661-133A>G
ENST00000673991.1:c.905A>G	ENSP00000501033.1:p.Lys302Arg
ENST00000226760.5:c.869A>G MANE Select	ENSP00000226760.1:p.Lys290Arg
ENST00000503569.5:c.869A>G	ENSP00000423337.1:p.Lys290Arg
ENST00000506362.1:c.502A>G
ENST00000507765.1:n.1054A>G
ENST00000513395.1:n.427A>G
NM_001145853.1:c.869A>G	NP_001139325.1:p.Lys290Arg
NM_006005.3:c.869A>G MANE Select	NP_005996.2:p.Lys290Arg
XM_017008586.1:c.878A>G	XP_016864075.1:p.Lys293Arg