Canonical Allele Identifier: CA255140
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10248
ClinVar RCV Id: RCV000010961
dbSNP Id: rs2228152
MyVariant Identifiers: chrX:g.154159682T>A (hg19) chrX:g.154931407T>A (hg38)
PubMed: PMID:1979502
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154931407T>A , CM000685.2:g.154931407T>A GRCh38
NC_000023.10:g.154159682T>A , CM000685.1:g.154159682T>A GRCh37
NC_000023.9:g.153812876T>A NCBI36
NG_011403.1:g.96317A>T
NG_011403.2:g.96317A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.2383A>T MANE Select ENSP00000353393.4:p.Arg795Ter
ENST00000647125.1:c.*2049A>T ENSP00000496062.1:n.*2049A>T
ENST00000360256.8:c.2383A>T ENSP00000353393.4:p.Arg795Ter
NM_000132.3:c.2383A>T NP_000123.1:p.Arg795Ter
XM_011531126.1:c.2278A>T XP_011529428.1:p.Arg760Ter
NM_000132.4:c.2383A>T MANE Select NP_000123.1:p.Arg795Ter
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