Canonical Allele Identifier: CA438368470

Gene: WFS1

Linked Data

• dbSNP Id: rs1730939579
• gnomAD v4: 4-6301871-C-T
• MyVariant Identifiers: chr4:g.6303598C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301871C>T , CM000666.2:g.6301871C>T	GRCh38
NC_000004.11:g.6303598C>T , CM000666.1:g.6303598C>T	GRCh37
NC_000004.10:g.6354499C>T	NCBI36
NG_011700.1:g.37022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2112C>T	ENSP00000507852.1:p.His704=
ENST00000683395.1:c.2053C>T
ENST00000684087.1:c.2076C>T	ENSP00000506978.1:p.His692=
ENST00000506362.2:c.1827C>T	ENSP00000424103.2:p.His609=
ENST00000673642.1:c.1735C>T	ENSP00000501242.1:n.1735C>T
ENST00000673991.1:c.2112C>T	ENSP00000501033.1:p.His704=
ENST00000226760.5:c.2076C>T MANE Select	ENSP00000226760.1:p.His692=
ENST00000503569.5:c.2076C>T	ENSP00000423337.1:p.His692=
ENST00000507765.1:n.2261C>T
NM_001145853.1:c.2076C>T	NP_001139325.1:p.His692=
NM_006005.3:c.2076C>T MANE Select	NP_005996.2:p.His692=
XM_017008586.1:c.2085C>T	XP_016864075.1:p.His695=