Canonical Allele Identifier: CA438368834

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301436-C-A
• MyVariant Identifiers: chr4:g.6303163C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301436C>A , CM000666.2:g.6301436C>A	GRCh38
NC_000004.11:g.6303163C>A , CM000666.1:g.6303163C>A	GRCh37
NC_000004.10:g.6354064C>A	NCBI36
NG_011700.1:g.36587C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1677C>A	ENSP00000507852.1:p.Ile559=
ENST00000683395.1:c.1618C>A
ENST00000684087.1:c.1641C>A	ENSP00000506978.1:p.Ile547=
ENST00000506362.2:c.1392C>A	ENSP00000424103.2:p.Ile464=
ENST00000673642.1:c.1300C>A	ENSP00000501242.1:n.1300C>A
ENST00000673991.1:c.1677C>A	ENSP00000501033.1:p.Ile559=
ENST00000226760.5:c.1641C>A MANE Select	ENSP00000226760.1:p.Ile547=
ENST00000503569.5:c.1641C>A	ENSP00000423337.1:p.Ile547=
ENST00000507765.1:n.1826C>A
NM_001145853.1:c.1641C>A	NP_001139325.1:p.Ile547=
NM_006005.3:c.1641C>A MANE Select	NP_005996.2:p.Ile547=
XM_017008586.1:c.1650C>A	XP_016864075.1:p.Ile550=