Canonical Allele Identifier: CA356173863
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1317613
ClinVar RCV Id: RCV001768179
dbSNP Id: rs1471076063
gnomAD v2: 4-6302430-T-C
gnomAD v4: 4-6300703-T-C
MyVariant Identifiers: chr4:g.6302430T>C (hg19) chr4:g.6300703T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300703T>C , CM000666.2:g.6300703T>C GRCh38
NC_000004.11:g.6302430T>C , CM000666.1:g.6302430T>C GRCh37
NC_000004.10:g.6353331T>C NCBI36
NG_011700.1:g.35854T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.944T>C ENSP00000507852.1:p.Leu315Pro
ENST00000683395.1:c.885T>C
ENST00000684087.1:c.908T>C ENSP00000506978.1:p.Leu303Pro
ENST00000506362.2:c.659T>C ENSP00000424103.2:p.Leu220Pro
ENST00000673642.1:c.661-94T>C ENSP00000501242.1:n.661-94T>C
ENST00000673991.1:c.944T>C ENSP00000501033.1:p.Leu315Pro
ENST00000226760.5:c.908T>C MANE Select ENSP00000226760.1:p.Leu303Pro
ENST00000503569.5:c.908T>C ENSP00000423337.1:p.Leu303Pro
ENST00000506362.1:c.541T>C
ENST00000507765.1:n.1093T>C
ENST00000513395.1:n.466T>C
NM_001145853.1:c.908T>C NP_001139325.1:p.Leu303Pro
NM_006005.3:c.908T>C MANE Select NP_005996.2:p.Leu303Pro
XM_017008586.1:c.917T>C XP_016864075.1:p.Leu306Pro
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