Canonical Allele Identifier: CA356178623

Gene: WFS1

Linked Data

• gnomAD v4: 4-6302257-G-T
• MyVariant Identifiers: chr4:g.6303984G>T (hg19) ; chr4:g.6302257G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302257G>T , CM000666.2:g.6302257G>T	GRCh38
NC_000004.11:g.6303984G>T , CM000666.1:g.6303984G>T	GRCh37
NC_000004.10:g.6354885G>T	NCBI36
NG_011700.1:g.37408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2498G>T	ENSP00000507852.1:p.Ser833Ile
ENST00000683395.1:c.2439G>T
ENST00000684087.1:c.2462G>T	ENSP00000506978.1:p.Ser821Ile
ENST00000506362.2:c.2213G>T	ENSP00000424103.2:p.Ser738Ile
ENST00000673991.1:c.2498G>T	ENSP00000501033.1:p.Ser833Ile
ENST00000226760.5:c.2462G>T MANE Select	ENSP00000226760.1:p.Ser821Ile
ENST00000503569.5:c.2462G>T	ENSP00000423337.1:p.Ser821Ile
ENST00000507765.1:n.2647G>T
NM_001145853.1:c.2462G>T	NP_001139325.1:p.Ser821Ile
NM_006005.3:c.2462G>T MANE Select	NP_005996.2:p.Ser821Ile
XM_017008586.1:c.2471G>T	XP_016864075.1:p.Ser824Ile