Canonical Allele Identifier: CA10425100
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs763597806
ExAC: X:54492166 C / T
gnomAD v2: X-54492166-C-T
gnomAD v4: X-54465733-C-T
MyVariant Identifiers: chrX:g.54492166C>T (hg19) chrX:g.54465733C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465733C>T , CM000685.2:g.54465733C>T GRCh38
NC_000023.10:g.54492166C>T , CM000685.1:g.54492166C>T GRCh37
NC_000023.9:g.54508891C>T NCBI36
NG_008054.1:g.35434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1460G>A MANE Select ENSP00000364277.3:p.Arg487His
ENST00000375135.3:c.1460G>A ENSP00000364277.3:p.Arg487His
NM_004463.2:c.1460G>A NP_004454.2:p.Arg487His
NM_004463.3:c.1460G>A MANE Select NP_004454.2:p.Arg487His
Search 100 bp 5'
Search 100 bp 3'