Canonical Allele Identifier: CA413254410
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2840527
ClinVar RCV Id: RCV003716389
dbSNP Id: rs753827121
MyVariant Identifiers: chrX:g.54521573G>C (hg19) chrX:g.54495140G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495140G>C , CM000685.2:g.54495140G>C GRCh38
NC_000023.10:g.54521573G>C , CM000685.1:g.54521573G>C GRCh37
NC_000023.9:g.54538298G>C NCBI36
NG_008054.1:g.6027C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.293C>G MANE Select ENSP00000364277.3:p.Ser98Trp
ENST00000375135.3:c.293C>G ENSP00000364277.3:p.Ser98Trp
NM_004463.2:c.293C>G NP_004454.2:p.Ser98Trp
NM_004463.3:c.293C>G MANE Select NP_004454.2:p.Ser98Trp
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