Canonical Allele Identifier: CA2839817
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 229646
ClinVar RCV Id: RCV003362731 RCV003736651
dbSNP Id: rs776324301
ExAC: 4:6304160 G / C
gnomAD v2: 4-6304160-G-C
gnomAD v3: 4-6302433-G-C
gnomAD v4: 4-6302433-G-C
MyVariant Identifiers: chr4:g.6304160G>C (hg19) chr4:g.6302433G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302433G>C , CM000666.2:g.6302433G>C GRCh38
NC_000004.11:g.6304160G>C , CM000666.1:g.6304160G>C GRCh37
NC_000004.10:g.6355061G>C NCBI36
NG_011700.1:g.37584G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2674G>C ENSP00000507852.1:p.Asp892His
ENST00000683395.1:c.2615G>C
ENST00000684087.1:c.2638G>C ENSP00000506978.1:p.Asp880His
ENST00000506362.2:c.2389G>C ENSP00000424103.2:p.Asp797His
ENST00000673991.1:c.2674G>C ENSP00000501033.1:p.Asp892His
ENST00000226760.5:c.2638G>C MANE Select ENSP00000226760.1:p.Asp880His
ENST00000503569.5:c.2638G>C ENSP00000423337.1:p.Asp880His
ENST00000507765.1:n.2823G>C
NM_001145853.1:c.2638G>C NP_001139325.1:p.Asp880His
NM_006005.3:c.2638G>C MANE Select NP_005996.2:p.Asp880His
XM_017008586.1:c.2647G>C XP_016864075.1:p.Asp883His
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