Canonical Allele Identifier: CA438211019
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1417674531

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291357C>G , CM000666.2:g.6291357C>G GRCh38
NC_000004.11:g.6293084C>G , CM000666.1:g.6293084C>G GRCh37
NC_000004.10:g.6343985C>G NCBI36
NG_011700.1:g.26508C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.621C>G ENSP00000507852.1:p.Val207=
ENST00000683395.1:c.608+3C>G
ENST00000684087.1:c.621C>G ENSP00000506978.1:p.Val207=
ENST00000684700.1:c.621C>G ENSP00000507806.1:p.Val207=
ENST00000506362.2:c.372C>G ENSP00000424103.2:p.Val124=
ENST00000673642.1:c.420C>G ENSP00000501242.1:p.Val140=
ENST00000673991.1:c.621C>G ENSP00000501033.1:p.Val207=
ENST00000226760.5:c.621C>G MANE Select ENSP00000226760.1:p.Val207=
ENST00000503569.5:c.621C>G ENSP00000423337.1:p.Val207=
ENST00000506362.1:c.218C>G
ENST00000507765.1:n.806C>G
NM_001145853.1:c.621C>G NP_001139325.1:p.Val207=
NM_006005.3:c.621C>G MANE Select NP_005996.2:p.Val207=
XM_017008586.1:c.630C>G XP_016864075.1:p.Val210=