Canonical Allele Identifier: CA121191
Gene: FGD1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.54470182G>A
GRCh37 chrX:g.54496615G>A
Revel Score:
ENST00000375135 (MANE Select) 0.394
gnomAD v2:
X:54496615 G / A
gnomAD v3:
X:54470182 G / A
gnomAD v4:
chrX-54470182-G-A
Joint Max Group AF 0.00093217 (NFE)
Genomes Max Group AF 0.00045356 (NFE)
Exomes Max Group AF 0.00095304 (NFE)
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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
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