Canonical Allele Identifier: CA2839676

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1315881
• ClinVar RCV Id: RCV001757328 ; RCV002477994
• dbSNP Id: rs377102310
• ExAC: 4:6303812 C / G
• gnomAD v2: 4-6303812-C-G
• gnomAD v3: 4-6302085-C-G
• gnomAD v4: 4-6302085-C-G
• MyVariant Identifiers: chr4:g.6303812C>G (hg19) ; chr4:g.6302085C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302085C>G , CM000666.2:g.6302085C>G	GRCh38
NC_000004.11:g.6303812C>G , CM000666.1:g.6303812C>G	GRCh37
NC_000004.10:g.6354713C>G	NCBI36
NG_011700.1:g.37236C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2326C>G	ENSP00000507852.1:p.Pro776Ala
ENST00000683395.1:c.2267C>G
ENST00000684087.1:c.2290C>G	ENSP00000506978.1:p.Pro764Ala
ENST00000506362.2:c.2041C>G	ENSP00000424103.2:p.Pro681Ala
ENST00000673642.1:c.1949C>G	ENSP00000501242.1:n.1949C>G
ENST00000673991.1:c.2326C>G	ENSP00000501033.1:p.Pro776Ala
ENST00000226760.5:c.2290C>G MANE Select	ENSP00000226760.1:p.Pro764Ala
ENST00000503569.5:c.2290C>G	ENSP00000423337.1:p.Pro764Ala
ENST00000507765.1:n.2475C>G
NM_001145853.1:c.2290C>G	NP_001139325.1:p.Pro764Ala
NM_006005.3:c.2290C>G MANE Select	NP_005996.2:p.Pro764Ala
XM_017008586.1:c.2299C>G	XP_016864075.1:p.Pro767Ala