Canonical Allele Identifier: CA438211511
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6302351-C-T
MyVariant Identifiers: chr4:g.6304078C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302351C>T , CM000666.2:g.6302351C>T GRCh38
NC_000004.11:g.6304078C>T , CM000666.1:g.6304078C>T GRCh37
NC_000004.10:g.6354979C>T NCBI36
NG_011700.1:g.37502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2592C>T ENSP00000507852.1:p.Ala864=
ENST00000683395.1:c.2533C>T
ENST00000684087.1:c.2556C>T ENSP00000506978.1:p.Ala852=
ENST00000506362.2:c.2307C>T ENSP00000424103.2:p.Ala769=
ENST00000673991.1:c.2592C>T ENSP00000501033.1:p.Ala864=
ENST00000226760.5:c.2556C>T MANE Select ENSP00000226760.1:p.Ala852=
ENST00000503569.5:c.2556C>T ENSP00000423337.1:p.Ala852=
ENST00000507765.1:n.2741C>T
NM_001145853.1:c.2556C>T NP_001139325.1:p.Ala852=
NM_006005.3:c.2556C>T MANE Select NP_005996.2:p.Ala852=
XM_017008586.1:c.2565C>T XP_016864075.1:p.Ala855=