Canonical Allele Identifier: CA413254423

Gene: FGD1

Linked Data

• dbSNP Id: rs1569541548
• gnomAD v3: X-54495144-C-T
• gnomAD v4: X-54495144-C-T
• MyVariant Identifiers: chrX:g.54521577C>T (hg19) ; chrX:g.54495144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495144C>T , CM000685.2:g.54495144C>T	GRCh38
NC_000023.10:g.54521577C>T , CM000685.1:g.54521577C>T	GRCh37
NC_000023.9:g.54538302C>T	NCBI36
NG_008054.1:g.6023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.289G>A MANE Select	ENSP00000364277.3:p.Gly97Ser
ENST00000375135.3:c.289G>A	ENSP00000364277.3:p.Gly97Ser
NM_004463.2:c.289G>A	NP_004454.2:p.Gly97Ser
NM_004463.3:c.289G>A MANE Select	NP_004454.2:p.Gly97Ser