Canonical Allele Identifier: CA413254469

Gene: FGD1

Linked Data

• dbSNP Id: rs371740120
• gnomAD v3: X-54495165-G-T
• gnomAD v4: X-54495165-G-T
• MyVariant Identifiers: chrX:g.54521598G>T (hg19) ; chrX:g.54495165G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495165G>T , CM000685.2:g.54495165G>T	GRCh38
NC_000023.10:g.54521598G>T , CM000685.1:g.54521598G>T	GRCh37
NC_000023.9:g.54538323G>T	NCBI36
NG_008054.1:g.6002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.268C>A MANE Select	ENSP00000364277.3:p.Arg90Ser
ENST00000375135.3:c.268C>A	ENSP00000364277.3:p.Arg90Ser
NM_004463.2:c.268C>A	NP_004454.2:p.Arg90Ser
NM_004463.3:c.268C>A MANE Select	NP_004454.2:p.Arg90Ser