Canonical Allele Identifier: CA328946456

Gene: FGD1

Linked Data

• dbSNP Id: rs886216322
• gnomAD v3: X-54495018-T-C
• gnomAD v4: X-54495018-T-C
• MyVariant Identifiers: chrX:g.54521451T>C (hg19) ; chrX:g.54495018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54495018T>C , CM000685.2:g.54495018T>C	GRCh38
NC_000023.10:g.54521451T>C , CM000685.1:g.54521451T>C	GRCh37
NC_000023.9:g.54538176T>C	NCBI36
NG_008054.1:g.6149A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.307+108A>G MANE Select	ENSP00000364277.3:n.307+108A>G
ENST00000375135.3:c.307+108A>G	ENSP00000364277.3:n.307+108A>G
NM_004463.2:c.307+108A>G	NP_004454.2:n.307+108A>G
NM_004463.3:c.307+108A>G MANE Select	NP_004454.2:n.307+108A>G