Canonical Allele Identifier: CA414918207
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1679449
ClinVar RCV Id: RCV002227328
dbSNP Id: rs2073444412
MyVariant Identifiers: chrX:g.154197762C>T (hg19) chrX:g.154969487C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969487C>T , CM000685.2:g.154969487C>T GRCh38
NC_000023.10:g.154197762C>T , CM000685.1:g.154197762C>T GRCh37
NC_000023.9:g.153850956C>T NCBI36
NG_011403.1:g.58237G>A
NG_011403.2:g.58237G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.853G>A MANE Select ENSP00000353393.4:p.Val285Met
ENST00000647125.1:c.*729G>A ENSP00000496062.1:n.*729G>A
ENST00000360256.8:c.853G>A ENSP00000353393.4:p.Val285Met
NM_000132.3:c.853G>A NP_000123.1:p.Val285Met
XM_011531126.1:c.748G>A XP_011529428.1:p.Val250Met
NM_000132.4:c.853G>A MANE Select NP_000123.1:p.Val285Met
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