Canonical Allele Identifier: CA261752
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45447
ClinVar RCV Id: RCV000038651
dbSNP Id: rs397517196
MyVariant Identifiers: chr4:g.6303663A>C (hg19) chr4:g.6301936A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301936A>C , CM000666.2:g.6301936A>C GRCh38
NC_000004.11:g.6303663A>C , CM000666.1:g.6303663A>C GRCh37
NC_000004.10:g.6354564A>C NCBI36
NG_011700.1:g.37087A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.2177A>C ENSP00000507852.1:p.Asn726Thr
ENST00000683395.1:c.2118A>C
ENST00000684087.1:c.2141A>C ENSP00000506978.1:p.Asn714Thr
ENST00000506362.2:c.1892A>C ENSP00000424103.2:p.Asn631Thr
ENST00000673642.1:c.1800A>C ENSP00000501242.1:n.1800A>C
ENST00000673991.1:c.2177A>C ENSP00000501033.1:p.Asn726Thr
ENST00000226760.5:c.2141A>C MANE Select ENSP00000226760.1:p.Asn714Thr
ENST00000503569.5:c.2141A>C ENSP00000423337.1:p.Asn714Thr
ENST00000507765.1:n.2326A>C
NM_001145853.1:c.2141A>C NP_001139325.1:p.Asn714Thr
NM_006005.3:c.2141A>C MANE Select NP_005996.2:p.Asn714Thr
XM_017008586.1:c.2150A>C XP_016864075.1:p.Asn717Thr
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