Canonical Allele Identifier: CA255082
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10195
ClinVar RCV Id: RCV000010908 RCV003415685
dbSNP Id: rs137852404
gnomAD v4: X-154969417-G-A
COSMIC: COSM4108252 COSM4108253
MyVariant Identifiers: chrX:g.154197692G>A (hg19) chrX:g.154969417G>A (hg38)
ERepo: CA255082/MONDO:0010602/071
PubMed: PMID:8449505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969417G>A , CM000685.2:g.154969417G>A GRCh38
NC_000023.10:g.154197692G>A , CM000685.1:g.154197692G>A GRCh37
NC_000023.9:g.153850886G>A NCBI36
NG_011403.1:g.58307C>T
NG_011403.2:g.58307C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.923C>T MANE Select ENSP00000353393.4:p.Ser308Leu
ENST00000647125.1:c.*799C>T ENSP00000496062.1:n.*799C>T
ENST00000360256.8:c.923C>T ENSP00000353393.4:p.Ser308Leu
NM_000132.3:c.923C>T NP_000123.1:p.Ser308Leu
XM_011531126.1:c.818C>T XP_011529428.1:p.Ser273Leu
NM_000132.4:c.923C>T MANE Select NP_000123.1:p.Ser308Leu
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