Canonical Allele Identifier: CA641367048
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs996944117
gnomAD v2: X-54521515-G-C
gnomAD v4: X-54495082-G-C
MyVariant Identifiers: chrX:g.54521515G>C (hg19) chrX:g.54495082G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495082G>C , CM000685.2:g.54495082G>C GRCh38
NC_000023.10:g.54521515G>C , CM000685.1:g.54521515G>C GRCh37
NC_000023.9:g.54538240G>C NCBI36
NG_008054.1:g.6085C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+44C>G MANE Select ENSP00000364277.3:n.307+44C>G
ENST00000375135.3:c.307+44C>G ENSP00000364277.3:n.307+44C>G
NM_004463.2:c.307+44C>G NP_004454.2:n.307+44C>G
NM_004463.3:c.307+44C>G MANE Select NP_004454.2:n.307+44C>G
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