Canonical Allele Identifier: CA91798010
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs557437645
gnomAD v2: 4-6304250-G-A
gnomAD v3: 4-6302523-G-A
gnomAD v4: 4-6302523-G-A
MyVariant Identifiers: chr4:g.6304250G>A (hg19) chr4:g.6302523G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302523G>A , CM000666.2:g.6302523G>A GRCh38
NC_000004.11:g.6304250G>A , CM000666.1:g.6304250G>A GRCh37
NC_000004.10:g.6355151G>A NCBI36
NG_011700.1:g.37674G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.*55G>A ENSP00000507852.1:n.*55G>A
ENST00000683395.1:c.2705G>A
ENST00000684087.1:c.*55G>A ENSP00000506978.1:n.*55G>A
ENST00000506362.2:c.*55G>A ENSP00000424103.2:n.*55G>A
ENST00000673991.1:c.*55G>A ENSP00000501033.1:n.*55G>A
ENST00000226760.5:c.*55G>A MANE Select ENSP00000226760.1:n.*55G>A
ENST00000503569.5:c.*55G>A ENSP00000423337.1:n.*55G>A
ENST00000507765.1:n.2913G>A
NM_001145853.1:c.*55G>A NP_001139325.1:n.*55G>A
NM_006005.3:c.*55G>A MANE Select NP_005996.2:n.*55G>A
XM_017008586.1:c.*55G>A XP_016864075.1:n.*55G>A
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