Canonical Allele Identifier: CA255177
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10288
ClinVar RCV Id: RCV000011001 RCV003480027
dbSNP Id: rs28933679
MyVariant Identifiers: chrX:g.154132786T>C (hg19) chrX:g.154904511T>C (hg38)
PubMed: PMID:1924291
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904511T>C , CM000685.2:g.154904511T>C GRCh38
NC_000023.10:g.154132786T>C , CM000685.1:g.154132786T>C GRCh37
NC_000023.9:g.153785980T>C NCBI36
NG_011403.1:g.123213A>G
NG_011403.2:g.123213A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.5600A>G MANE Select ENSP00000353393.4:p.His1867Arg
ENST00000360256.8:c.5600A>G ENSP00000353393.4:p.His1867Arg
NM_000132.3:c.5600A>G NP_000123.1:p.His1867Arg
XM_011531126.1:c.5495A>G XP_011529428.1:p.His1832Arg
NM_000132.4:c.5600A>G MANE Select NP_000123.1:p.His1867Arg
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