Canonical Allele Identifier: CA10425109
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898168
ClinVar RCV Id: RCV003726251
dbSNP Id: rs757230624
ExAC: X:54492280 C / T
gnomAD v2: X-54492280-C-T
gnomAD v3: X-54465847-C-T
gnomAD v4: X-54465847-C-T
MyVariant Identifiers: chrX:g.54492280C>T (hg19) chrX:g.54465847C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465847C>T , CM000685.2:g.54465847C>T GRCh38
NC_000023.10:g.54492280C>T , CM000685.1:g.54492280C>T GRCh37
NC_000023.9:g.54509005C>T NCBI36
NG_008054.1:g.35320G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1346G>A MANE Select ENSP00000364277.3:p.Arg449His
ENST00000375135.3:c.1346G>A ENSP00000364277.3:p.Arg449His
NM_004463.2:c.1346G>A NP_004454.2:p.Arg449His
NM_004463.3:c.1346G>A MANE Select NP_004454.2:p.Arg449His
Search 100 bp 5'
Search 100 bp 3'