Canonical Allele Identifier: CA413254467

Gene: FGD1

Linked Data

• gnomAD v4: X-54495164-C-G
• MyVariant Identifiers: chrX:g.54521597C>G (hg19) ; chrX:g.54495164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495164C>G , CM000685.2:g.54495164C>G	GRCh38
NC_000023.10:g.54521597C>G , CM000685.1:g.54521597C>G	GRCh37
NC_000023.9:g.54538322C>G	NCBI36
NG_008054.1:g.6003G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.269G>C MANE Select	ENSP00000364277.3:p.Arg90Pro
ENST00000375135.3:c.269G>C	ENSP00000364277.3:p.Arg90Pro
NM_004463.2:c.269G>C	NP_004454.2:p.Arg90Pro
NM_004463.3:c.269G>C MANE Select	NP_004454.2:p.Arg90Pro