Canonical Allele Identifier: CA255040
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10146
ClinVar RCV Id: RCV000010859
dbSNP Id: rs137852373
COSMIC: COSM3559861 COSM3559862
MyVariant Identifiers: chrX:g.154156898C>T (hg19) chrX:g.154928623C>T (hg38)
PubMed: PMID:1908817
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928623C>T , CM000685.2:g.154928623C>T GRCh38
NC_000023.10:g.154156898C>T , CM000685.1:g.154156898C>T GRCh37
NC_000023.9:g.153810092C>T NCBI36
NG_011403.1:g.99101G>A
NG_011403.2:g.99101G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5167G>A MANE Select ENSP00000353393.4:p.Glu1723Lys
ENST00000360256.8:c.5167G>A ENSP00000353393.4:p.Glu1723Lys
NM_000132.3:c.5167G>A NP_000123.1:p.Glu1723Lys
XM_011531126.1:c.5062G>A XP_011529428.1:p.Glu1688Lys
NM_000132.4:c.5167G>A MANE Select NP_000123.1:p.Glu1723Lys
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