Canonical Allele Identifier: CA2693846297
Gene: FGD1 HGNC NCBI

Linked Data

gnomAD v4: X-54495081-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495081A>C , CM000685.2:g.54495081A>C GRCh38
NC_000023.10:g.54521514A>C , CM000685.1:g.54521514A>C GRCh37
NC_000023.9:g.54538239A>C NCBI36
NG_008054.1:g.6086T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+45T>G MANE Select ENSP00000364277.3:n.307+45T>G
ENST00000375135.3:c.307+45T>G ENSP00000364277.3:n.307+45T>G
NM_004463.2:c.307+45T>G NP_004454.2:n.307+45T>G
NM_004463.3:c.307+45T>G MANE Select NP_004454.2:n.307+45T>G
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