Canonical Allele Identifier: CA121191
Gene: FGD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10828
dbSNP Id: rs28935498
gnomAD v2: X-54496615-G-A
gnomAD v3: X-54470182-G-A
gnomAD v4: X-54470182-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54470182G>A , CM000685.2:g.54470182G>A GRCh38
NC_000023.10:g.54496615G>A , CM000685.1:g.54496615G>A GRCh37
NC_000023.9:g.54513340G>A NCBI36
NG_008054.1:g.30985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.935C>T MANE Select ENSP00000364277.3:p.Pro312Leu
ENST00000375135.3:c.935C>T ENSP00000364277.3:p.Pro312Leu
NM_004463.2:c.935C>T NP_004454.2:p.Pro312Leu
NM_004463.3:c.935C>T MANE Select NP_004454.2:p.Pro312Leu