Canonical Allele Identifier: CA549423192
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1342107974
gnomAD v2: 4-6293356-A-G
gnomAD v3: 4-6291629-A-G
gnomAD v4: 4-6291629-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291629A>G , CM000666.2:g.6291629A>G GRCh38
NC_000004.11:g.6293356A>G , CM000666.1:g.6293356A>G GRCh37
NC_000004.10:g.6344257A>G NCBI36
NG_011700.1:g.26780A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.631+262A>G ENSP00000507852.1:n.631+262A>G
ENST00000683395.1:c.608+275A>G
ENST00000684087.1:c.631+262A>G ENSP00000506978.1:n.631+262A>G
ENST00000684700.1:c.*188A>G ENSP00000507806.1:n.*188A>G
ENST00000506362.2:c.382+262A>G ENSP00000424103.2:n.382+262A>G
ENST00000673642.1:c.430+262A>G ENSP00000501242.1:n.430+262A>G
ENST00000673991.1:c.631+262A>G ENSP00000501033.1:n.631+262A>G
ENST00000226760.5:c.631+262A>G MANE Select ENSP00000226760.1:n.631+262A>G
ENST00000503569.5:c.631+262A>G ENSP00000423337.1:n.631+262A>G
ENST00000506362.1:c.228+262A>G
ENST00000507765.1:n.816+262A>G
NM_001145853.1:c.631+262A>G NP_001139325.1:n.631+262A>G
NM_006005.3:c.631+262A>G MANE Select NP_005996.2:n.631+262A>G
XM_017008586.1:c.640+262A>G XP_016864075.1:n.640+262A>G