Canonical Allele Identifier: CA328946580

Gene: FGD1

Linked Data

• dbSNP Id: rs913891414
• gnomAD v3: X-54495173-C-G
• gnomAD v4: X-54495173-C-G
• MyVariant Identifiers: chrX:g.54521606C>G (hg19) ; chrX:g.54495173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495173C>G , CM000685.2:g.54495173C>G	GRCh38
NC_000023.10:g.54521606C>G , CM000685.1:g.54521606C>G	GRCh37
NC_000023.9:g.54538331C>G	NCBI36
NG_008054.1:g.5994G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.260G>C MANE Select	ENSP00000364277.3:p.Arg87Pro
ENST00000375135.3:c.260G>C	ENSP00000364277.3:p.Arg87Pro
NM_004463.2:c.260G>C	NP_004454.2:p.Arg87Pro
NM_004463.3:c.260G>C MANE Select	NP_004454.2:p.Arg87Pro