Canonical Allele Identifier: CA356178109

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1453615
• ClinVar RCV Id: RCV001994853 ; RCV003323960
• dbSNP Id: rs71530911
• MyVariant Identifiers: chr4:g.6303727C>G (hg19) ; chr4:g.6302000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302000C>G , CM000666.2:g.6302000C>G	GRCh38
NC_000004.11:g.6303727C>G , CM000666.1:g.6303727C>G	GRCh37
NC_000004.10:g.6354628C>G	NCBI36
NG_011700.1:g.37151C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2241C>G	ENSP00000507852.1:p.Tyr747Ter
ENST00000683395.1:c.2182C>G
ENST00000684087.1:c.2205C>G	ENSP00000506978.1:p.Tyr735Ter
ENST00000506362.2:c.1956C>G	ENSP00000424103.2:p.Tyr652Ter
ENST00000673642.1:c.1864C>G	ENSP00000501242.1:n.1864C>G
ENST00000673991.1:c.2241C>G	ENSP00000501033.1:p.Tyr747Ter
ENST00000226760.5:c.2205C>G MANE Select	ENSP00000226760.1:p.Tyr735Ter
ENST00000503569.5:c.2205C>G	ENSP00000423337.1:p.Tyr735Ter
ENST00000507765.1:n.2390C>G
NM_001145853.1:c.2205C>G	NP_001139325.1:p.Tyr735Ter
NM_006005.3:c.2205C>G MANE Select	NP_005996.2:p.Tyr735Ter
XM_017008586.1:c.2214C>G	XP_016864075.1:p.Tyr738Ter