Canonical Allele Identifier: CA641367053
Gene: FGD1 HGNC NCBI

Linked Data

dbSNP Id: rs1183804071
gnomAD v2: X-54521537-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54495104G>A , CM000685.2:g.54495104G>A GRCh38
NC_000023.10:g.54521537G>A , CM000685.1:g.54521537G>A GRCh37
NC_000023.9:g.54538262G>A NCBI36
NG_008054.1:g.6063C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375135.4:c.307+22C>T MANE Select ENSP00000364277.3:n.307+22C>T
ENST00000375135.3:c.307+22C>T ENSP00000364277.3:n.307+22C>T
NM_004463.2:c.307+22C>T NP_004454.2:n.307+22C>T
NM_004463.3:c.307+22C>T MANE Select NP_004454.2:n.307+22C>T