Canonical Allele Identifier: CA2669824998
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6277693-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6277693G>T , CM000666.2:g.6277693G>T GRCh38
NC_000004.11:g.6279420G>T , CM000666.1:g.6279420G>T GRCh37
NC_000004.10:g.6330321G>T NCBI36
NG_011700.1:g.12844G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000506588.6:n.402+6G>T
ENST00000682059.1:c.232+6G>T ENSP00000507988.1:n.232+6G>T
ENST00000682275.1:c.232+6G>T ENSP00000507852.1:n.232+6G>T
ENST00000683395.1:c.222+6G>T
ENST00000684054.1:c.232+6G>T ENSP00000507120.1:n.232+6G>T
ENST00000684087.1:c.232+6G>T ENSP00000506978.1:n.232+6G>T
ENST00000684700.1:c.232+6G>T ENSP00000507806.1:n.232+6G>T
ENST00000506362.2:c.-18+7679G>T ENSP00000424103.2:n.-18+7679G>T
ENST00000673642.1:c.31+6G>T ENSP00000501242.1:n.31+6G>T
ENST00000673991.1:c.232+6G>T ENSP00000501033.1:n.232+6G>T
ENST00000674051.1:c.106+6G>T ENSP00000501083.1:n.106+6G>T
ENST00000226760.5:c.232+6G>T MANE Select ENSP00000226760.1:n.232+6G>T
ENST00000503569.5:c.232+6G>T ENSP00000423337.1:n.232+6G>T
ENST00000506588.5:n.402+6G>T
NM_001145853.1:c.232+6G>T NP_001139325.1:n.232+6G>T
NM_006005.3:c.232+6G>T MANE Select NP_005996.2:n.232+6G>T
XM_017008586.1:c.241+6G>T XP_016864075.1:n.241+6G>T