Canonical Allele Identifier: CA876352230
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1402433704
gnomAD v3: X-54465973-C-G
gnomAD v4: X-54465973-C-G
MyVariant Identifiers: chrX:g.54492406C>G (hg19) chrX:g.54465973C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465973C>G , CM000685.2:g.54465973C>G GRCh38
NC_000023.10:g.54492406C>G , CM000685.1:g.54492406C>G GRCh37
NC_000023.9:g.54509131C>G NCBI36
NG_008054.1:g.35194G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1341-121G>C MANE Select ENSP00000364277.3:n.1341-121G>C
ENST00000375135.3:c.1341-121G>C ENSP00000364277.3:n.1341-121G>C
NM_004463.2:c.1341-121G>C NP_004454.2:n.1341-121G>C
NM_004463.3:c.1341-121G>C MANE Select NP_004454.2:n.1341-121G>C
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