Canonical Allele Identifier: CA549424636

Gene: WFS1

Linked Data

• dbSNP Id: rs1372598484
• gnomAD v2: 4-6304728-G-T
• gnomAD v3: 4-6303001-G-T
• gnomAD v4: 4-6303001-G-T
• MyVariant Identifiers: chr4:g.6304728G>T (hg19) ; chr4:g.6303001G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303001G>T , CM000666.2:g.6303001G>T	GRCh38
NC_000004.11:g.6304728G>T , CM000666.1:g.6304728G>T	GRCh37
NC_000004.10:g.6355629G>T	NCBI36
NG_011700.1:g.38152G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*533G>T	ENSP00000507852.1:n.*533G>T
ENST00000683395.1:c.3183G>T
ENST00000684087.1:c.*533G>T	ENSP00000506978.1:n.*533G>T
ENST00000673991.1:c.*533G>T	ENSP00000501033.1:n.*533G>T
ENST00000226760.5:c.*533G>T MANE Select	ENSP00000226760.1:n.*533G>T
ENST00000507765.1:n.3391G>T
NM_001145853.1:c.*533G>T	NP_001139325.1:n.*533G>T
NM_006005.3:c.*533G>T MANE Select	NP_005996.2:n.*533G>T
XM_017008586.1:c.*533G>T	XP_016864075.1:n.*533G>T
XR_001741566.2:n.1944C>A