Canonical Allele Identifier: CA255172
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10283
ClinVar RCV Id: RCV000010996
dbSNP Id: rs387906457
MyVariant Identifiers: chrX:g.154133193T>A (hg19) chrX:g.154904918T>A (hg38)
PubMed: PMID:8307558
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904918T>A , CM000685.2:g.154904918T>A GRCh38
NC_000023.10:g.154133193T>A , CM000685.1:g.154133193T>A GRCh37
NC_000023.9:g.153786387T>A NCBI36
NG_011403.1:g.122806A>T
NG_011403.2:g.122806A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5479A>T MANE Select ENSP00000353393.4:p.Lys1827Ter
ENST00000360256.8:c.5479A>T ENSP00000353393.4:p.Lys1827Ter
NM_000132.3:c.5479A>T NP_000123.1:p.Lys1827Ter
XM_011531126.1:c.5374A>T XP_011529428.1:p.Lys1792Ter
NM_000132.4:c.5479A>T MANE Select NP_000123.1:p.Lys1827Ter
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