Canonical Allele Identifier: CA91798356

Gene: WFS1

Linked Data

• dbSNP Id: rs1057257056
• gnomAD v2: 4-6304678-T-G
• gnomAD v3: 4-6302951-T-G
• gnomAD v4: 4-6302951-T-G
• MyVariant Identifiers: chr4:g.6304678T>G (hg19) ; chr4:g.6302951T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302951T>G , CM000666.2:g.6302951T>G	GRCh38
NC_000004.11:g.6304678T>G , CM000666.1:g.6304678T>G	GRCh37
NC_000004.10:g.6355579T>G	NCBI36
NG_011700.1:g.38102T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*483T>G	ENSP00000507852.1:n.*483T>G
ENST00000683395.1:c.3133T>G
ENST00000684087.1:c.*483T>G	ENSP00000506978.1:n.*483T>G
ENST00000673991.1:c.*483T>G	ENSP00000501033.1:n.*483T>G
ENST00000226760.5:c.*483T>G MANE Select	ENSP00000226760.1:n.*483T>G
ENST00000507765.1:n.3341T>G
NM_001145853.1:c.*483T>G	NP_001139325.1:n.*483T>G
NM_006005.3:c.*483T>G MANE Select	NP_005996.2:n.*483T>G
XM_017008586.1:c.*483T>G	XP_016864075.1:n.*483T>G
XR_001741566.2:n.1994A>C