Canonical Allele Identifier: CA255146
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10253
ClinVar RCV Id: RCV000010966 RCV000851976
dbSNP Id: rs387906450
ExAC: X:154158427 AT / A
gnomAD v2: X-154158427-AT-A
gnomAD v3: X-154930152-AT-A
gnomAD v4: X-154930152-AT-A
COSMIC: COSM1238823 COSM1238824
MyVariant Identifiers: chrX:g.154158428del (hg19) chrX:g.154930153del (hg38)
ERepo: CA255146/MONDO:0010602/071
PubMed: PMID:8307558
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154930161del , CM000685.2:g.154930161del GRCh38
NC_000023.10:g.154158436del , CM000685.1:g.154158436del GRCh37
NC_000023.9:g.153811630del NCBI36
NG_011403.1:g.97571del
NG_011403.2:g.97571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.3637del MANE Select ENSP00000353393.4:p.Ile1213PhefsTer5
ENST00000647125.1:c.*3303del ENSP00000496062.1:n.*3303del
ENST00000360256.8:c.3637del ENSP00000353393.4:p.Ile1213PhefsTer5
NM_000132.3:c.3637del NP_000123.1:p.Ile1213PhefsTer5
XM_011531126.1:c.3532del XP_011529428.1:p.Ile1178PhefsTer5
NM_000132.4:c.3637del MANE Select NP_000123.1:p.Ile1213PhefsTer5
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