Canonical Allele Identifier: CA413245346

Gene: FGD1

Linked Data

• ClinVar Variation Id: 1706643
• ClinVar RCV Id: RCV002285252
• gnomAD v4: X-54465848-G-A
• MyVariant Identifiers: chrX:g.54492281G>A (hg19) ; chrX:g.54465848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54465848G>A , CM000685.2:g.54465848G>A	GRCh38
NC_000023.10:g.54492281G>A , CM000685.1:g.54492281G>A	GRCh37
NC_000023.9:g.54509006G>A	NCBI36
NG_008054.1:g.35319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.1345C>T MANE Select	ENSP00000364277.3:p.Arg449Cys
ENST00000375135.3:c.1345C>T	ENSP00000364277.3:p.Arg449Cys
NM_004463.2:c.1345C>T	NP_004454.2:p.Arg449Cys
NM_004463.3:c.1345C>T MANE Select	NP_004454.2:p.Arg449Cys