Canonical Allele Identifier: CA516689486
Gene: FGD1 HGNC NCBI

Linked Data

COSMIC: COSM3562497
MyVariant Identifiers: chrX:g.54492258G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465825G>A , CM000685.2:g.54465825G>A GRCh38
NC_000023.10:g.54492258G>A , CM000685.1:g.54492258G>A GRCh37
NC_000023.9:g.54508983G>A NCBI36
NG_008054.1:g.35342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1368C>T MANE Select ENSP00000364277.3:p.Ile456=
ENST00000375135.3:c.1368C>T ENSP00000364277.3:p.Ile456=
NM_004463.2:c.1368C>T NP_004454.2:p.Ile456=
NM_004463.3:c.1368C>T MANE Select NP_004454.2:p.Ile456=
Search 100 bp 5'
Search 100 bp 3'