Canonical Allele Identifier: CA2839258

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1518651
• ClinVar RCV Id: RCV002024019
• dbSNP Id: rs754090711
• ExAC: 4:6302727 T / C
• gnomAD v2: 4-6302727-T-C
• gnomAD v4: 4-6301000-T-C
• MyVariant Identifiers: chr4:g.6302727T>C (hg19) ; chr4:g.6301000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301000T>C , CM000666.2:g.6301000T>C	GRCh38
NC_000004.11:g.6302727T>C , CM000666.1:g.6302727T>C	GRCh37
NC_000004.10:g.6353628T>C	NCBI36
NG_011700.1:g.36151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1241T>C	ENSP00000507852.1:p.Leu414Pro
ENST00000683395.1:c.1182T>C
ENST00000684087.1:c.1205T>C	ENSP00000506978.1:p.Leu402Pro
ENST00000506362.2:c.956T>C	ENSP00000424103.2:p.Leu319Pro
ENST00000673642.1:c.864T>C	ENSP00000501242.1:p.Pro288=
ENST00000673991.1:c.1241T>C	ENSP00000501033.1:p.Leu414Pro
ENST00000226760.5:c.1205T>C MANE Select	ENSP00000226760.1:p.Leu402Pro
ENST00000503569.5:c.1205T>C	ENSP00000423337.1:p.Leu402Pro
ENST00000507765.1:n.1390T>C
NM_001145853.1:c.1205T>C	NP_001139325.1:p.Leu402Pro
NM_006005.3:c.1205T>C MANE Select	NP_005996.2:p.Leu402Pro
XM_017008586.1:c.1214T>C	XP_016864075.1:p.Leu405Pro