Canonical Allele Identifier: CA253205
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4524
ClinVar RCV Id: RCV000004782
dbSNP Id: rs104893882
gnomAD v4: 4-6301696-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301696A>C , CM000666.2:g.6301696A>C GRCh38
NC_000004.11:g.6303423A>C , CM000666.1:g.6303423A>C GRCh37
NC_000004.10:g.6354324A>C NCBI36
NG_011700.1:g.36847A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1937A>C ENSP00000507852.1:p.Lys646Thr
ENST00000683395.1:c.1878A>C
ENST00000684087.1:c.1901A>C ENSP00000506978.1:p.Lys634Thr
ENST00000506362.2:c.1652A>C ENSP00000424103.2:p.Lys551Thr
ENST00000673642.1:c.1560A>C ENSP00000501242.1:n.1560A>C
ENST00000673991.1:c.1937A>C ENSP00000501033.1:p.Lys646Thr
ENST00000226760.5:c.1901A>C MANE Select ENSP00000226760.1:p.Lys634Thr
ENST00000503569.5:c.1901A>C ENSP00000423337.1:p.Lys634Thr
ENST00000507765.1:n.2086A>C
NM_001145853.1:c.1901A>C NP_001139325.1:p.Lys634Thr
NM_006005.3:c.1901A>C MANE Select NP_005996.2:p.Lys634Thr
XM_017008586.1:c.1910A>C XP_016864075.1:p.Lys637Thr