Canonical Allele Identifier: CA253201

Gene: WFS1

Linked Data

• ClinVar Variation Id: 4522
• ClinVar RCV Id: RCV000004780 ; RCV000238945 ; RCV001851653
• dbSNP Id: rs28937894
• gnomAD v4: 4-6301891-C-T
• MyVariant Identifiers: chr4:g.6303618C>T (hg19) ; chr4:g.6301891C>T (hg38)
• PubMed: PMID:11709537 ; PMID:12073007

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301891C>T , CM000666.2:g.6301891C>T	GRCh38
NC_000004.11:g.6303618C>T , CM000666.1:g.6303618C>T	GRCh37
NC_000004.10:g.6354519C>T	NCBI36
NG_011700.1:g.37042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2132C>T	ENSP00000507852.1:p.Thr711Met
ENST00000683395.1:c.2073C>T
ENST00000684087.1:c.2096C>T	ENSP00000506978.1:p.Thr699Met
ENST00000506362.2:c.1847C>T	ENSP00000424103.2:p.Thr616Met
ENST00000673642.1:c.1755C>T	ENSP00000501242.1:n.1755C>T
ENST00000673991.1:c.2132C>T	ENSP00000501033.1:p.Thr711Met
ENST00000226760.5:c.2096C>T MANE Select	ENSP00000226760.1:p.Thr699Met
ENST00000503569.5:c.2096C>T	ENSP00000423337.1:p.Thr699Met
ENST00000507765.1:n.2281C>T
NM_001145853.1:c.2096C>T	NP_001139325.1:p.Thr699Met
NM_006005.3:c.2096C>T MANE Select	NP_005996.2:p.Thr699Met
XM_017008586.1:c.2105C>T	XP_016864075.1:p.Thr702Met