Canonical Allele Identifier: CA91794606
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs558636279
gnomAD v2: 4-6293274-G-C
gnomAD v3: 4-6291547-G-C
gnomAD v4: 4-6291547-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291547G>C , CM000666.2:g.6291547G>C GRCh38
NC_000004.11:g.6293274G>C , CM000666.1:g.6293274G>C GRCh37
NC_000004.10:g.6344175G>C NCBI36
NG_011700.1:g.26698G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+180G>C ENSP00000507852.1:n.631+180G>C
ENST00000683395.1:c.608+193G>C
ENST00000684087.1:c.631+180G>C ENSP00000506978.1:n.631+180G>C
ENST00000684700.1:c.*106G>C ENSP00000507806.1:n.*106G>C
ENST00000506362.2:c.382+180G>C ENSP00000424103.2:n.382+180G>C
ENST00000673642.1:c.430+180G>C ENSP00000501242.1:n.430+180G>C
ENST00000673991.1:c.631+180G>C ENSP00000501033.1:n.631+180G>C
ENST00000226760.5:c.631+180G>C MANE Select ENSP00000226760.1:n.631+180G>C
ENST00000503569.5:c.631+180G>C ENSP00000423337.1:n.631+180G>C
ENST00000506362.1:c.228+180G>C
ENST00000507765.1:n.816+180G>C
NM_001145853.1:c.631+180G>C NP_001139325.1:n.631+180G>C
NM_006005.3:c.631+180G>C MANE Select NP_005996.2:n.631+180G>C
XM_017008586.1:c.640+180G>C XP_016864075.1:n.640+180G>C