Canonical Allele Identifier: CA438210953

Gene: WFS1

Linked Data

• gnomAD v4: 4-6291249-C-T
• MyVariant Identifiers: chr4:g.6292976C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291249C>T , CM000666.2:g.6291249C>T	GRCh38
NC_000004.11:g.6292976C>T , CM000666.1:g.6292976C>T	GRCh37
NC_000004.10:g.6343877C>T	NCBI36
NG_011700.1:g.26400C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.513C>T	ENSP00000507852.1:p.Asp171=
ENST00000683395.1:c.503C>T
ENST00000684087.1:c.513C>T	ENSP00000506978.1:p.Asp171=
ENST00000684700.1:c.513C>T	ENSP00000507806.1:p.Asp171=
ENST00000506362.2:c.264C>T	ENSP00000424103.2:p.Asp88=
ENST00000673642.1:c.312C>T	ENSP00000501242.1:p.Asp104=
ENST00000673991.1:c.513C>T	ENSP00000501033.1:p.Asp171=
ENST00000674051.1:c.387C>T	ENSP00000501083.1:p.Asp129=
ENST00000226760.5:c.513C>T MANE Select	ENSP00000226760.1:p.Asp171=
ENST00000503569.5:c.513C>T	ENSP00000423337.1:p.Asp171=
ENST00000506362.1:c.110C>T
ENST00000507765.1:n.698C>T
NM_001145853.1:c.513C>T	NP_001139325.1:p.Asp171=
NM_006005.3:c.513C>T MANE Select	NP_005996.2:p.Asp171=
XM_017008586.1:c.522C>T	XP_016864075.1:p.Asp174=