Canonical Allele Identifier: CA16604623
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 382132
ClinVar RCV Id: RCV000437981 RCV002465651
dbSNP Id: rs527868928
gnomAD v2: 4-6271720-C-T
gnomAD v3: 4-6269993-C-T
gnomAD v4: 4-6269993-C-T
MyVariant Identifiers: chr4:g.6271720C>T (hg19) chr4:g.6269993C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6269993C>T , CM000666.2:g.6269993C>T GRCh38
NC_000004.11:g.6271720C>T , CM000666.1:g.6271720C>T GRCh37
NC_000004.10:g.6322621C>T NCBI36
NG_011700.1:g.5144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000506588.6:n.144C>T
ENST00000682275.1:c.-27C>T ENSP00000507852.1:n.-27C>T
ENST00000506362.2:c.-39C>T ENSP00000424103.2:n.-39C>T
ENST00000673991.1:c.-23C>T ENSP00000501033.1:n.-23C>T
ENST00000226760.5:c.-27C>T MANE Select ENSP00000226760.1:n.-27C>T
ENST00000503569.5:c.-23C>T ENSP00000423337.1:n.-23C>T
ENST00000506588.5:n.144C>T
NM_001145853.1:c.-23C>T NP_001139325.1:n.-23C>T
NM_006005.3:c.-27C>T MANE Select NP_005996.2:n.-27C>T
XM_017008586.1:c.5-7458C>T XP_016864075.1:n.5-7458C>T
Search 100 bp 5'
Search 100 bp 3'