Canonical Allele Identifier: CA413254420
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1923499988
gnomAD v3: X-54495143-C-T
gnomAD v4: X-54495143-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495143C>T , CM000685.2:g.54495143C>T GRCh38
NC_000023.10:g.54521576C>T , CM000685.1:g.54521576C>T GRCh37
NC_000023.9:g.54538301C>T NCBI36
NG_008054.1:g.6024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.290G>A MANE Select ENSP00000364277.3:p.Gly97Asp
ENST00000375135.3:c.290G>A ENSP00000364277.3:p.Gly97Asp
NM_004463.2:c.290G>A NP_004454.2:p.Gly97Asp
NM_004463.3:c.290G>A MANE Select NP_004454.2:p.Gly97Asp