Canonical Allele Identifier: CA356173941

Gene: WFS1

Linked Data

• dbSNP Id: rs1578608429
• MyVariant Identifiers: chr4:g.6302468T>G (hg19) ; chr4:g.6300741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300741T>G , CM000666.2:g.6300741T>G	GRCh38
NC_000004.11:g.6302468T>G , CM000666.1:g.6302468T>G	GRCh37
NC_000004.10:g.6353369T>G	NCBI36
NG_011700.1:g.35892T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.982T>G	ENSP00000507852.1:p.Ser328Ala
ENST00000683395.1:c.923T>G
ENST00000684087.1:c.946T>G	ENSP00000506978.1:p.Ser316Ala
ENST00000506362.2:c.697T>G	ENSP00000424103.2:p.Ser233Ala
ENST00000673642.1:c.661-56T>G	ENSP00000501242.1:n.661-56T>G
ENST00000673991.1:c.982T>G	ENSP00000501033.1:p.Ser328Ala
ENST00000226760.5:c.946T>G MANE Select	ENSP00000226760.1:p.Ser316Ala
ENST00000503569.5:c.946T>G	ENSP00000423337.1:p.Ser316Ala
ENST00000506362.1:c.579T>G
ENST00000507765.1:n.1131T>G
ENST00000513395.1:n.504T>G
NM_001145853.1:c.946T>G	NP_001139325.1:p.Ser316Ala
NM_006005.3:c.946T>G MANE Select	NP_005996.2:p.Ser316Ala
XM_017008586.1:c.955T>G	XP_016864075.1:p.Ser319Ala