Canonical Allele Identifier: CA148166
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95092
ClinVar RCV Id: RCV000081097 RCV000514781 RCV000608756 RCV002313779 RCV003905060
dbSNP Id: rs145644275
ExAC: X:54497833 C / T
gnomAD v2: X-54497833-C-T
gnomAD v3: X-54471400-C-T
gnomAD v4: X-54471400-C-T
COSMIC: COSM4755518
MyVariant Identifiers: chrX:g.54497833C>T (hg19) chrX:g.54471400C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54471400C>T , CM000685.2:g.54471400C>T GRCh38
NC_000023.10:g.54497833C>T , CM000685.1:g.54497833C>T GRCh37
NC_000023.9:g.54514558C>T NCBI36
NG_008054.1:g.29767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.395G>A MANE Select ENSP00000364277.3:p.Arg132Gln
ENST00000375135.3:c.395G>A ENSP00000364277.3:p.Arg132Gln
NM_004463.2:c.395G>A NP_004454.2:p.Arg132Gln
NM_004463.3:c.395G>A MANE Select NP_004454.2:p.Arg132Gln
Search 100 bp 5'
Search 100 bp 3'