Canonical Allele Identifier: CA356178031
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6303707G>C (hg19) chr4:g.6301980G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301980G>C , CM000666.2:g.6301980G>C GRCh38
NC_000004.11:g.6303707G>C , CM000666.1:g.6303707G>C GRCh37
NC_000004.10:g.6354608G>C NCBI36
NG_011700.1:g.37131G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.2221G>C ENSP00000507852.1:p.Asp741His
ENST00000683395.1:c.2162G>C
ENST00000684087.1:c.2185G>C ENSP00000506978.1:p.Asp729His
ENST00000506362.2:c.1936G>C ENSP00000424103.2:p.Asp646His
ENST00000673642.1:c.1844G>C ENSP00000501242.1:n.1844G>C
ENST00000673991.1:c.2221G>C ENSP00000501033.1:p.Asp741His
ENST00000226760.5:c.2185G>C MANE Select ENSP00000226760.1:p.Asp729His
ENST00000503569.5:c.2185G>C ENSP00000423337.1:p.Asp729His
ENST00000507765.1:n.2370G>C
NM_001145853.1:c.2185G>C NP_001139325.1:p.Asp729His
NM_006005.3:c.2185G>C MANE Select NP_005996.2:p.Asp729His
XM_017008586.1:c.2194G>C XP_016864075.1:p.Asp732His
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