Canonical Allele Identifier: CA549423290

Gene: WFS1

Linked Data

• dbSNP Id: rs1271600805
• gnomAD v2: 4-6293775-C-T
• gnomAD v4: 4-6292048-C-T
• MyVariant Identifiers: chr4:g.6293775C>T (hg19) ; chr4:g.6292048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6292048C>T , CM000666.2:g.6292048C>T	GRCh38
NC_000004.11:g.6293775C>T , CM000666.1:g.6293775C>T	GRCh37
NC_000004.10:g.6344676C>T	NCBI36
NG_011700.1:g.27199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.712+51C>T	ENSP00000507852.1:n.712+51C>T
ENST00000683395.1:c.689+51C>T
ENST00000684087.1:c.712+51C>T	ENSP00000506978.1:n.712+51C>T
ENST00000506362.2:c.463+51C>T	ENSP00000424103.2:n.463+51C>T
ENST00000673642.1:c.511+51C>T	ENSP00000501242.1:n.511+51C>T
ENST00000673991.1:c.712+51C>T	ENSP00000501033.1:n.712+51C>T
ENST00000226760.5:c.712+51C>T MANE Select	ENSP00000226760.1:n.712+51C>T
ENST00000503569.5:c.712+51C>T	ENSP00000423337.1:n.712+51C>T
ENST00000506362.1:c.309+51C>T
ENST00000507765.1:n.897+51C>T
NM_001145853.1:c.712+51C>T	NP_001139325.1:n.712+51C>T
NM_006005.3:c.712+51C>T MANE Select	NP_005996.2:n.712+51C>T
XM_017008586.1:c.721+51C>T	XP_016864075.1:n.721+51C>T