Canonical Allele Identifier: CA413245241
Gene: FGD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465836T>C , CM000685.2:g.54465836T>C GRCh38
NC_000023.10:g.54492269T>C , CM000685.1:g.54492269T>C GRCh37
NC_000023.9:g.54508994T>C NCBI36
NG_008054.1:g.35331A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1357A>G MANE Select ENSP00000364277.3:p.Ile453Val
ENST00000375135.3:c.1357A>G ENSP00000364277.3:p.Ile453Val
NM_004463.2:c.1357A>G NP_004454.2:p.Ile453Val
NM_004463.3:c.1357A>G MANE Select NP_004454.2:p.Ile453Val