Canonical Allele Identifier: CA91798348
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs927434910
MyVariant Identifiers: chr4:g.6304671G>C (hg19) chr4:g.6302944G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302944G>C , CM000666.2:g.6302944G>C GRCh38
NC_000004.11:g.6304671G>C , CM000666.1:g.6304671G>C GRCh37
NC_000004.10:g.6355572G>C NCBI36
NG_011700.1:g.38095G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*476G>C ENSP00000507852.1:n.*476G>C
ENST00000683395.1:c.3126G>C
ENST00000684087.1:c.*476G>C ENSP00000506978.1:n.*476G>C
ENST00000673991.1:c.*476G>C ENSP00000501033.1:n.*476G>C
ENST00000226760.5:c.*476G>C MANE Select ENSP00000226760.1:n.*476G>C
ENST00000507765.1:n.3334G>C
NM_001145853.1:c.*476G>C NP_001139325.1:n.*476G>C
NM_006005.3:c.*476G>C MANE Select NP_005996.2:n.*476G>C
XM_017008586.1:c.*476G>C XP_016864075.1:n.*476G>C
XR_001741566.2:n.2001C>G
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