Canonical Allele Identifier: CA413254802

Gene: FGD1

Linked Data

• dbSNP Id: rs1415764166
• gnomAD v3: X-54495273-C-A
• gnomAD v4: X-54495273-C-A
• MyVariant Identifiers: chrX:g.54521706C>A (hg19) ; chrX:g.54495273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495273C>A , CM000685.2:g.54495273C>A	GRCh38
NC_000023.10:g.54521706C>A , CM000685.1:g.54521706C>A	GRCh37
NC_000023.9:g.54538431C>A	NCBI36
NG_008054.1:g.5894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.160G>T MANE Select	ENSP00000364277.3:p.Gly54Cys
ENST00000375135.3:c.160G>T	ENSP00000364277.3:p.Gly54Cys
NM_004463.2:c.160G>T	NP_004454.2:p.Gly54Cys
NM_004463.3:c.160G>T MANE Select	NP_004454.2:p.Gly54Cys