Canonical Allele Identifier: CA414912841
Gene: F8 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition hemophilia A
VCEP Coagulation Factor Deficiency VCEP
MyVariant.info:
GRCh38 chrX:g.154961144T>C
GRCh37 chrX:g.154189419T>C
Revel Score:
ENST00000360256 (MANE Select) 0.887
ClinVar Allele:
792180
ClinVar RCV:
RCV000991026
ClinVar Variation:
804141
dbSNP:
1603435026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154961144T>C , CM000685.2:g.154961144T>C GRCh38
NC_000023.10:g.154189419T>C , CM000685.1:g.154189419T>C GRCh37
NC_000023.9:g.153842613T>C NCBI36
NG_011403.1:g.66580A>G
NG_011403.2:g.66580A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1468A>G MANE Select ENSP00000353393.4:p.Arg490Gly
ENST00000647125.1:c.*1344A>G ENSP00000496062.1:n.*1344A>G
ENST00000360256.8:c.1468A>G ENSP00000353393.4:p.Arg490Gly
NM_000132.3:c.1468A>G NP_000123.1:p.Arg490Gly
XM_011531126.1:c.1363A>G XP_011529428.1:p.Arg455Gly
NM_000132.4:c.1468A>G MANE Select NP_000123.1:p.Arg490Gly
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