Canonical Allele Identifier: CA2502184131
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2976449
ClinVar RCV Id: RCV003836599
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465598G>A , CM000685.2:g.54465598G>A GRCh38
NC_000023.10:g.54492031G>A , CM000685.1:g.54492031G>A GRCh37
NC_000023.9:g.54508756G>A NCBI36
NG_008054.1:g.35569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1498-9C>T MANE Select ENSP00000364277.3:n.1498-9C>T
ENST00000375135.3:c.1498-9C>T ENSP00000364277.3:n.1498-9C>T
NM_004463.2:c.1498-9C>T NP_004454.2:n.1498-9C>T
NM_004463.3:c.1498-9C>T MANE Select NP_004454.2:n.1498-9C>T
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