Canonical Allele Identifier: CA328937345

Gene: FGD1

Linked Data

• ClinVar Variation Id: 1294728
• ClinVar RCV Id: RCV001720632
• dbSNP Id: rs2269570
• gnomAD v2: X-54492350-A-G
• gnomAD v3: X-54465917-A-G
• gnomAD v4: X-54465917-A-G
• MyVariant Identifiers: chrX:g.54492350A>G (hg19) ; chrX:g.54465917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54465917A>G , CM000685.2:g.54465917A>G	GRCh38
NC_000023.10:g.54492350A>G , CM000685.1:g.54492350A>G	GRCh37
NC_000023.9:g.54509075A>G	NCBI36
NG_008054.1:g.35250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375135.4:c.1341-65T>C MANE Select	ENSP00000364277.3:n.1341-65T>C
ENST00000375135.3:c.1341-65T>C	ENSP00000364277.3:n.1341-65T>C
NM_004463.2:c.1341-65T>C	NP_004454.2:n.1341-65T>C
NM_004463.3:c.1341-65T>C MANE Select	NP_004454.2:n.1341-65T>C