Canonical Allele Identifier: CA414909250
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 592086
ClinVar RCV Id: RCV000723273
dbSNP Id: rs1569559755
MyVariant Identifiers: chrX:g.154176042C>A (hg19) chrX:g.154947767C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154947767C>A , CM000685.2:g.154947767C>A GRCh38
NC_000023.10:g.154176042C>A , CM000685.1:g.154176042C>A GRCh37
NC_000023.9:g.153829236C>A NCBI36
NG_011403.1:g.79957G>T
NG_011403.2:g.79957G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2044G>T MANE Select ENSP00000353393.4:p.Val682Phe
ENST00000647125.1:c.*1779+6125G>T ENSP00000496062.1:n.*1779+6125G>T
ENST00000360256.8:c.2044G>T ENSP00000353393.4:p.Val682Phe
NM_000132.3:c.2044G>T NP_000123.1:p.Val682Phe
XM_011531126.1:c.1939G>T XP_011529428.1:p.Val647Phe
NM_000132.4:c.2044G>T MANE Select NP_000123.1:p.Val682Phe
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