Canonical Allele Identifier: CA438368910

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301457-G-T
• MyVariant Identifiers: chr4:g.6303184G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301457G>T , CM000666.2:g.6301457G>T	GRCh38
NC_000004.11:g.6303184G>T , CM000666.1:g.6303184G>T	GRCh37
NC_000004.10:g.6354085G>T	NCBI36
NG_011700.1:g.36608G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1698G>T	ENSP00000507852.1:p.Leu566=
ENST00000683395.1:c.1639G>T
ENST00000684087.1:c.1662G>T	ENSP00000506978.1:p.Leu554=
ENST00000506362.2:c.1413G>T	ENSP00000424103.2:p.Leu471=
ENST00000673642.1:c.1321G>T	ENSP00000501242.1:n.1321G>T
ENST00000673991.1:c.1698G>T	ENSP00000501033.1:p.Leu566=
ENST00000226760.5:c.1662G>T MANE Select	ENSP00000226760.1:p.Leu554=
ENST00000503569.5:c.1662G>T	ENSP00000423337.1:p.Leu554=
ENST00000507765.1:n.1847G>T
NM_001145853.1:c.1662G>T	NP_001139325.1:p.Leu554=
NM_006005.3:c.1662G>T MANE Select	NP_005996.2:p.Leu554=
XM_017008586.1:c.1671G>T	XP_016864075.1:p.Leu557=