Canonical Allele Identifier: CA10568504
Gene: F8 HGNC NCBI
ClinGen Classification:
Classification Benign
Condition hemophilia A
VCEP Coagulation Factor Deficiency VCEP
ClinVar RCV:
RCV000506787
RCV000861340
ClinVar Variation:
368124
dbSNP:
1800289
gnomAD v2:
X:154194886 C / T
gnomAD v3:
X:154966611 C / T
gnomAD v4:
chrX-154966611-C-T
Joint Max Group AF 0.0364103 (AFR)
Genomes Max Group AF 0.03433709 (AFR)
Exomes Max Group AF 0.03763982 (AFR)
MyVariant.info:
GRCh38 chrX:g.154966611C>T
GRCh37 chrX:g.154194886C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966611C>T , CM000685.2:g.154966611C>T GRCh38
NC_000023.10:g.154194886C>T , CM000685.1:g.154194886C>T GRCh37
NC_000023.9:g.153848080C>T NCBI36
NG_011403.1:g.61113G>A
NG_011403.2:g.61113G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1086G>A MANE Select ENSP00000353393.4:p.Ala362=
ENST00000647125.1:c.*962G>A ENSP00000496062.1:n.*962G>A
ENST00000360256.8:c.1086G>A ENSP00000353393.4:p.Ala362=
NM_000132.3:c.1086G>A NP_000123.1:p.Ala362=
XM_011531126.1:c.981G>A XP_011529428.1:p.Ala327=
NM_000132.4:c.1086G>A MANE Select NP_000123.1:p.Ala362=
Search 100 bp 5'
Search 100 bp 3'