Canonical Allele Identifier: CA2839275

Gene: WFS1

Linked Data

• ClinVar Variation Id: 724524
• ClinVar RCV Id: RCV000898449 ; RCV002509577 ; RCV002502637
• dbSNP Id: rs760897070
• ExAC: 4:6302755 T / G
• gnomAD v2: 4-6302755-T-G
• gnomAD v3: 4-6301028-T-G
• gnomAD v4: 4-6301028-T-G
• MyVariant Identifiers: chr4:g.6302755T>G (hg19) ; chr4:g.6301028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301028T>G , CM000666.2:g.6301028T>G	GRCh38
NC_000004.11:g.6302755T>G , CM000666.1:g.6302755T>G	GRCh37
NC_000004.10:g.6353656T>G	NCBI36
NG_011700.1:g.36179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1269T>G	ENSP00000507852.1:p.Ser423=
ENST00000683395.1:c.1210T>G
ENST00000684087.1:c.1233T>G	ENSP00000506978.1:p.Ser411=
ENST00000506362.2:c.984T>G	ENSP00000424103.2:p.Ser328=
ENST00000673642.1:c.892T>G	ENSP00000501242.1:p.Cys298Gly
ENST00000673991.1:c.1269T>G	ENSP00000501033.1:p.Ser423=
ENST00000226760.5:c.1233T>G MANE Select	ENSP00000226760.1:p.Ser411=
ENST00000503569.5:c.1233T>G	ENSP00000423337.1:p.Ser411=
ENST00000507765.1:n.1418T>G
NM_001145853.1:c.1233T>G	NP_001139325.1:p.Ser411=
NM_006005.3:c.1233T>G MANE Select	NP_005996.2:p.Ser411=
XM_017008586.1:c.1242T>G	XP_016864075.1:p.Ser414=