Canonical Allele Identifier: CA438368440
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6302806C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301079C>A , CM000666.2:g.6301079C>A GRCh38
NC_000004.11:g.6302806C>A , CM000666.1:g.6302806C>A GRCh37
NC_000004.10:g.6353707C>A NCBI36
NG_011700.1:g.36230C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1320C>A ENSP00000507852.1:p.Pro440=
ENST00000683395.1:c.1261C>A
ENST00000684087.1:c.1284C>A ENSP00000506978.1:p.Pro428=
ENST00000506362.2:c.1035C>A ENSP00000424103.2:p.Pro345=
ENST00000673642.1:c.943C>A ENSP00000501242.1:p.Leu315Met
ENST00000673991.1:c.1320C>A ENSP00000501033.1:p.Pro440=
ENST00000226760.5:c.1284C>A MANE Select ENSP00000226760.1:p.Pro428=
ENST00000503569.5:c.1284C>A ENSP00000423337.1:p.Pro428=
ENST00000507765.1:n.1469C>A
NM_001145853.1:c.1284C>A NP_001139325.1:p.Pro428=
NM_006005.3:c.1284C>A MANE Select NP_005996.2:p.Pro428=
XM_017008586.1:c.1293C>A XP_016864075.1:p.Pro431=