Canonical Allele Identifier: CA2669843997
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6302979-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302979T>G , CM000666.2:g.6302979T>G GRCh38
NC_000004.11:g.6304706T>G , CM000666.1:g.6304706T>G GRCh37
NC_000004.10:g.6355607T>G NCBI36
NG_011700.1:g.38130T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*511T>G ENSP00000507852.1:n.*511T>G
ENST00000683395.1:c.3161T>G
ENST00000684087.1:c.*511T>G ENSP00000506978.1:n.*511T>G
ENST00000673991.1:c.*511T>G ENSP00000501033.1:n.*511T>G
ENST00000226760.5:c.*511T>G MANE Select ENSP00000226760.1:n.*511T>G
ENST00000507765.1:n.3369T>G
NM_001145853.1:c.*511T>G NP_001139325.1:n.*511T>G
NM_006005.3:c.*511T>G MANE Select NP_005996.2:n.*511T>G
XM_017008586.1:c.*511T>G XP_016864075.1:n.*511T>G
XR_001741566.2:n.1966A>C