Canonical Allele Identifier: CA1058893285

Gene: WFS1

Linked Data

• dbSNP Id: rs1731013059
• gnomAD v3: 4-6302869-T-G
• gnomAD v4: 4-6302869-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302869T>G , CM000666.2:g.6302869T>G	GRCh38
NC_000004.11:g.6304596T>G , CM000666.1:g.6304596T>G	GRCh37
NC_000004.10:g.6355497T>G	NCBI36
NG_011700.1:g.38020T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*401T>G	ENSP00000507852.1:n.*401T>G
ENST00000683395.1:c.3051T>G
ENST00000684087.1:c.*401T>G	ENSP00000506978.1:n.*401T>G
ENST00000506362.2:c.*401T>G	ENSP00000424103.2:n.*401T>G
ENST00000673991.1:c.*401T>G	ENSP00000501033.1:n.*401T>G
ENST00000226760.5:c.*401T>G MANE Select	ENSP00000226760.1:n.*401T>G
ENST00000503569.5:c.*401T>G	ENSP00000423337.1:n.*401T>G
ENST00000507765.1:n.3259T>G
NM_001145853.1:c.*401T>G	NP_001139325.1:n.*401T>G
NM_006005.3:c.*401T>G MANE Select	NP_005996.2:n.*401T>G
XM_017008586.1:c.*401T>G	XP_016864075.1:n.*401T>G