Canonical Allele Identifier: CA10425304

Gene: FGD1

Linked Data

• ClinVar Variation Id: 2192947
• ClinVar RCV Id: RCV002607735
• dbSNP Id: rs749854866
• ExAC: X:54521665 G / T
• gnomAD v2: X-54521665-G-T
• gnomAD v3: X-54495232-G-T
• gnomAD v4: X-54495232-G-T
• MyVariant Identifiers: chrX:g.54521665G>T (hg19) ; chrX:g.54495232G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495232G>T , CM000685.2:g.54495232G>T	GRCh38
NC_000023.10:g.54521665G>T , CM000685.1:g.54521665G>T	GRCh37
NC_000023.9:g.54538390G>T	NCBI36
NG_008054.1:g.5935C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.201C>A MANE Select	ENSP00000364277.3:p.Ser67Arg
ENST00000375135.3:c.201C>A	ENSP00000364277.3:p.Ser67Arg
NM_004463.2:c.201C>A	NP_004454.2:p.Ser67Arg
NM_004463.3:c.201C>A MANE Select	NP_004454.2:p.Ser67Arg