Canonical Allele Identifier: CA356174323

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1485253
• ClinVar RCV Id: RCV002008525
• dbSNP Id: rs772554352
• gnomAD v2: 4-6302657-G-C
• gnomAD v3: 4-6300930-G-C
• gnomAD v4: 4-6300930-G-C
• MyVariant Identifiers: chr4:g.6302657G>C (hg19) ; chr4:g.6300930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300930G>C , CM000666.2:g.6300930G>C	GRCh38
NC_000004.11:g.6302657G>C , CM000666.1:g.6302657G>C	GRCh37
NC_000004.10:g.6353558G>C	NCBI36
NG_011700.1:g.36081G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1171G>C	ENSP00000507852.1:p.Asp391His
ENST00000683395.1:c.1112G>C
ENST00000684087.1:c.1135G>C	ENSP00000506978.1:p.Asp379His
ENST00000506362.2:c.886G>C	ENSP00000424103.2:p.Asp296His
ENST00000673642.1:c.794G>C	ENSP00000501242.1:p.Arg265Pro
ENST00000673991.1:c.1171G>C	ENSP00000501033.1:p.Asp391His
ENST00000226760.5:c.1135G>C MANE Select	ENSP00000226760.1:p.Asp379His
ENST00000503569.5:c.1135G>C	ENSP00000423337.1:p.Asp379His
ENST00000507765.1:n.1320G>C
NM_001145853.1:c.1135G>C	NP_001139325.1:p.Asp379His
NM_006005.3:c.1135G>C MANE Select	NP_005996.2:p.Asp379His
XM_017008586.1:c.1144G>C	XP_016864075.1:p.Asp382His