Canonical Allele Identifier: CA356169706

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6279318C>G (hg19) ; chr4:g.6277591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277591C>G , CM000666.2:g.6277591C>G	GRCh38
NC_000004.11:g.6279318C>G , CM000666.1:g.6279318C>G	GRCh37
NC_000004.10:g.6330219C>G	NCBI36
NG_011700.1:g.12742C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000506588.6:n.306C>G
ENST00000682059.1:c.136C>G	ENSP00000507988.1:p.Pro46Ala
ENST00000682275.1:c.136C>G	ENSP00000507852.1:p.Pro46Ala
ENST00000683395.1:c.126C>G
ENST00000684054.1:c.136C>G	ENSP00000507120.1:p.Pro46Ala
ENST00000684087.1:c.136C>G	ENSP00000506978.1:p.Pro46Ala
ENST00000684700.1:c.136C>G	ENSP00000507806.1:p.Pro46Ala
ENST00000506362.2:c.-18+7577C>G	ENSP00000424103.2:n.-18+7577C>G
ENST00000673991.1:c.136C>G	ENSP00000501033.1:p.Pro46Ala
ENST00000674051.1:c.67-57C>G	ENSP00000501083.1:n.67-57C>G
ENST00000226760.5:c.136C>G MANE Select	ENSP00000226760.1:p.Pro46Ala
ENST00000503569.5:c.136C>G	ENSP00000423337.1:p.Pro46Ala
ENST00000506588.5:n.306C>G
NM_001145853.1:c.136C>G	NP_001139325.1:p.Pro46Ala
NM_006005.3:c.136C>G MANE Select	NP_005996.2:p.Pro46Ala
XM_017008586.1:c.145C>G	XP_016864075.1:p.Pro49Ala