Canonical Allele Identifier: CA1133242238
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1923496104
gnomAD v3: X-54495025-G-A
gnomAD v4: X-54495025-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495025G>A , CM000685.2:g.54495025G>A GRCh38
NC_000023.10:g.54521458G>A , CM000685.1:g.54521458G>A GRCh37
NC_000023.9:g.54538183G>A NCBI36
NG_008054.1:g.6142C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+101C>T MANE Select ENSP00000364277.3:n.307+101C>T
ENST00000375135.3:c.307+101C>T ENSP00000364277.3:n.307+101C>T
NM_004463.2:c.307+101C>T NP_004454.2:n.307+101C>T
NM_004463.3:c.307+101C>T MANE Select NP_004454.2:n.307+101C>T
Search 100 bp 5'
Search 100 bp 3'