Canonical Allele Identifier: CA10425101
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 804800
ClinVar RCV Id: RCV000991983
dbSNP Id: rs200637558
ExAC: X:54492186 C / G
gnomAD v2: X-54492186-C-G
gnomAD v3: X-54465753-C-G
gnomAD v4: X-54465753-C-G
MyVariant Identifiers: chrX:g.54492186C>G (hg19) chrX:g.54465753C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465753C>G , CM000685.2:g.54465753C>G GRCh38
NC_000023.10:g.54492186C>G , CM000685.1:g.54492186C>G GRCh37
NC_000023.9:g.54508911C>G NCBI36
NG_008054.1:g.35414G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1440G>C MANE Select ENSP00000364277.3:p.Leu480=
ENST00000375135.3:c.1440G>C ENSP00000364277.3:p.Leu480=
NM_004463.2:c.1440G>C NP_004454.2:p.Leu480=
NM_004463.3:c.1440G>C MANE Select NP_004454.2:p.Leu480=
Search 100 bp 5'
Search 100 bp 3'