Canonical Allele Identifier: CA255096
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10206
ClinVar RCV Id: RCV000010919
dbSNP Id: rs28933669
MyVariant Identifiers: chrX:g.154194798A>G (hg19) chrX:g.154966523A>G (hg38)
PubMed: PMID:8052958
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966523A>G , CM000685.2:g.154966523A>G GRCh38
NC_000023.10:g.154194798A>G , CM000685.1:g.154194798A>G GRCh37
NC_000023.9:g.153847992A>G NCBI36
NG_011403.1:g.61201T>C
NG_011403.2:g.61201T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1174T>C MANE Select ENSP00000353393.4:p.Ser392Pro
ENST00000647125.1:c.*1050T>C ENSP00000496062.1:n.*1050T>C
ENST00000360256.8:c.1174T>C ENSP00000353393.4:p.Ser392Pro
NM_000132.3:c.1174T>C NP_000123.1:p.Ser392Pro
XM_011531126.1:c.1069T>C XP_011529428.1:p.Ser357Pro
NM_000132.4:c.1174T>C MANE Select NP_000123.1:p.Ser392Pro
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