Canonical Allele Identifier: CA356178389
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302130G>C , CM000666.2:g.6302130G>C GRCh38
NC_000004.11:g.6303857G>C , CM000666.1:g.6303857G>C GRCh37
NC_000004.10:g.6354758G>C NCBI36
NG_011700.1:g.37281G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2371G>C ENSP00000507852.1:p.Val791Leu
ENST00000683395.1:c.2312G>C
ENST00000684087.1:c.2335G>C ENSP00000506978.1:p.Val779Leu
ENST00000506362.2:c.2086G>C ENSP00000424103.2:p.Val696Leu
ENST00000673642.1:c.1994G>C ENSP00000501242.1:n.1994G>C
ENST00000673991.1:c.2371G>C ENSP00000501033.1:p.Val791Leu
ENST00000226760.5:c.2335G>C MANE Select ENSP00000226760.1:p.Val779Leu
ENST00000503569.5:c.2335G>C ENSP00000423337.1:p.Val779Leu
ENST00000507765.1:n.2520G>C
NM_001145853.1:c.2335G>C NP_001139325.1:p.Val779Leu
NM_006005.3:c.2335G>C MANE Select NP_005996.2:p.Val779Leu
XM_017008586.1:c.2344G>C XP_016864075.1:p.Val782Leu