Canonical Allele Identifier: CA438368457
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6301622-G-C
MyVariant Identifiers: chr4:g.6303349G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301622G>C , CM000666.2:g.6301622G>C GRCh38
NC_000004.11:g.6303349G>C , CM000666.1:g.6303349G>C GRCh37
NC_000004.10:g.6354250G>C NCBI36
NG_011700.1:g.36773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1863G>C ENSP00000507852.1:p.Leu621=
ENST00000683395.1:c.1804G>C
ENST00000684087.1:c.1827G>C ENSP00000506978.1:p.Leu609=
ENST00000506362.2:c.1578G>C ENSP00000424103.2:p.Leu526=
ENST00000673642.1:c.1486G>C ENSP00000501242.1:n.1486G>C
ENST00000673991.1:c.1863G>C ENSP00000501033.1:p.Leu621=
ENST00000226760.5:c.1827G>C MANE Select ENSP00000226760.1:p.Leu609=
ENST00000503569.5:c.1827G>C ENSP00000423337.1:p.Leu609=
ENST00000507765.1:n.2012G>C
NM_001145853.1:c.1827G>C NP_001139325.1:p.Leu609=
NM_006005.3:c.1827G>C MANE Select NP_005996.2:p.Leu609=
XM_017008586.1:c.1836G>C XP_016864075.1:p.Leu612=