Canonical Allele Identifier: CA915951112
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 744726
ClinVar RCV Id: RCV000921209
dbSNP Id: rs1601953713
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54465860G>A , CM000685.2:g.54465860G>A GRCh38
NC_000023.10:g.54492293G>A , CM000685.1:g.54492293G>A GRCh37
NC_000023.9:g.54509018G>A NCBI36
NG_008054.1:g.35307C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.1341-8C>T MANE Select ENSP00000364277.3:n.1341-8C>T
ENST00000375135.3:c.1341-8C>T ENSP00000364277.3:n.1341-8C>T
NM_004463.2:c.1341-8C>T NP_004454.2:n.1341-8C>T
NM_004463.3:c.1341-8C>T MANE Select NP_004454.2:n.1341-8C>T
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