Canonical Allele Identifier: CA356173868

Gene: WFS1

Linked Data

• gnomAD v4: 4-6300706-T-A
• MyVariant Identifiers: chr4:g.6302433T>A (hg19) ; chr4:g.6300706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300706T>A , CM000666.2:g.6300706T>A	GRCh38
NC_000004.11:g.6302433T>A , CM000666.1:g.6302433T>A	GRCh37
NC_000004.10:g.6353334T>A	NCBI36
NG_011700.1:g.35857T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.947T>A	ENSP00000507852.1:p.Ile316Asn
ENST00000683395.1:c.888T>A
ENST00000684087.1:c.911T>A	ENSP00000506978.1:p.Ile304Asn
ENST00000506362.2:c.662T>A	ENSP00000424103.2:p.Ile221Asn
ENST00000673642.1:c.661-91T>A	ENSP00000501242.1:n.661-91T>A
ENST00000673991.1:c.947T>A	ENSP00000501033.1:p.Ile316Asn
ENST00000226760.5:c.911T>A MANE Select	ENSP00000226760.1:p.Ile304Asn
ENST00000503569.5:c.911T>A	ENSP00000423337.1:p.Ile304Asn
ENST00000506362.1:c.544T>A
ENST00000507765.1:n.1096T>A
ENST00000513395.1:n.469T>A
NM_001145853.1:c.911T>A	NP_001139325.1:p.Ile304Asn
NM_006005.3:c.911T>A MANE Select	NP_005996.2:p.Ile304Asn
XM_017008586.1:c.920T>A	XP_016864075.1:p.Ile307Asn