Canonical Allele Identifier: CA1435773450
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs989200968
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6303020T>C , CM000666.2:g.6303020T>C GRCh38
NC_000004.11:g.6304747T>C , CM000666.1:g.6304747T>C GRCh37
NC_000004.10:g.6355648T>C NCBI36
NG_011700.1:g.38171T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*552T>C ENSP00000507852.1:n.*552T>C
ENST00000683395.1:c.3202T>C
ENST00000684087.1:c.*552T>C ENSP00000506978.1:n.*552T>C
ENST00000673991.1:c.*552T>C ENSP00000501033.1:n.*552T>C
ENST00000226760.5:c.*552T>C MANE Select ENSP00000226760.1:n.*552T>C
ENST00000507765.1:n.3410T>C
NM_001145853.1:c.*552T>C NP_001139325.1:n.*552T>C
NM_006005.3:c.*552T>C MANE Select NP_005996.2:n.*552T>C
XM_017008586.1:c.*552T>C XP_016864075.1:n.*552T>C
XR_001741566.2:n.1925A>G
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