Canonical Allele Identifier: CA438367955
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6302614G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300887G>C , CM000666.2:g.6300887G>C GRCh38
NC_000004.11:g.6302614G>C , CM000666.1:g.6302614G>C GRCh37
NC_000004.10:g.6353515G>C NCBI36
NG_011700.1:g.36038G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1128G>C ENSP00000507852.1:p.Val376=
ENST00000683395.1:c.1069G>C
ENST00000684087.1:c.1092G>C ENSP00000506978.1:p.Val364=
ENST00000506362.2:c.843G>C ENSP00000424103.2:p.Val281=
ENST00000673642.1:c.751G>C ENSP00000501242.1:p.Val251Leu
ENST00000673991.1:c.1128G>C ENSP00000501033.1:p.Val376=
ENST00000226760.5:c.1092G>C MANE Select ENSP00000226760.1:p.Val364=
ENST00000503569.5:c.1092G>C ENSP00000423337.1:p.Val364=
ENST00000506362.1:c.725G>C
ENST00000507765.1:n.1277G>C
NM_001145853.1:c.1092G>C NP_001139325.1:p.Val364=
NM_006005.3:c.1092G>C MANE Select NP_005996.2:p.Val364=
XM_017008586.1:c.1101G>C XP_016864075.1:p.Val367=