Canonical Allele Identifier: CA413245262
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1922747119
gnomAD v3: X-54465838-C-T
gnomAD v4: X-54465838-C-T
COSMIC: COSM1173595
MyVariant Identifiers: chrX:g.54492271C>T (hg19) chrX:g.54465838C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465838C>T , CM000685.2:g.54465838C>T GRCh38
NC_000023.10:g.54492271C>T , CM000685.1:g.54492271C>T GRCh37
NC_000023.9:g.54508996C>T NCBI36
NG_008054.1:g.35329G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1355G>A MANE Select ENSP00000364277.3:p.Arg452His
ENST00000375135.3:c.1355G>A ENSP00000364277.3:p.Arg452His
NM_004463.2:c.1355G>A NP_004454.2:p.Arg452His
NM_004463.3:c.1355G>A MANE Select NP_004454.2:p.Arg452His
Search 100 bp 5'
Search 100 bp 3'