Canonical Allele Identifier: CA10568309
Gene: F8 HGNC NCBI
ClinVar RCV:
RCV000298078
ClinVar Variation:
368121
dbSNP:
200316756
gnomAD v2:
X:154159530 G / T
gnomAD v3:
X:154931255 G / T
gnomAD v4:
chrX-154931255-G-T
Joint Max Group AF 0.00061428 (EAS)
Genomes Max Group AF 0.00055138 (EAS)
Exomes Max Group AF 0.00054756 (EAS)
MyVariant.info:
GRCh38 chrX:g.154931255G>T
GRCh37 chrX:g.154159530G>T
Revel Score:
ENST00000360256 (MANE Select) 0.242
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154931255G>T , CM000685.2:g.154931255G>T GRCh38
NC_000023.10:g.154159530G>T , CM000685.1:g.154159530G>T GRCh37
NC_000023.9:g.153812724G>T NCBI36
NG_011403.1:g.96469C>A
NG_011403.2:g.96469C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.2535C>A MANE Select ENSP00000353393.4:p.Asp845Glu
ENST00000647125.1:c.*2201C>A ENSP00000496062.1:n.*2201C>A
ENST00000360256.8:c.2535C>A ENSP00000353393.4:p.Asp845Glu
NM_000132.3:c.2535C>A NP_000123.1:p.Asp845Glu
XM_011531126.1:c.2430C>A XP_011529428.1:p.Asp810Glu
NM_000132.4:c.2535C>A MANE Select NP_000123.1:p.Asp845Glu
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