Canonical Allele Identifier: CA255191
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10300
ClinVar RCV Id: RCV000011013
dbSNP Id: rs137852452
COSMIC: COSM5986499 COSM5986500
MyVariant Identifiers: chrX:g.154132226G>A (hg19) chrX:g.154903951G>A (hg38)
PubMed: PMID:1349567 PMID:8054459 PMID:8281136 PMID:8307558 PMID:8485051
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903951G>A , CM000685.2:g.154903951G>A GRCh38
NC_000023.10:g.154132226G>A , CM000685.1:g.154132226G>A GRCh37
NC_000023.9:g.153785420G>A NCBI36
NG_011403.1:g.123773C>T
NG_011403.2:g.123773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5953C>T MANE Select ENSP00000353393.4:p.Arg1985Ter
ENST00000360256.8:c.5953C>T ENSP00000353393.4:p.Arg1985Ter
NM_000132.3:c.5953C>T NP_000123.1:p.Arg1985Ter
XM_011531126.1:c.5848C>T XP_011529428.1:p.Arg1950Ter
NM_000132.4:c.5953C>T MANE Select NP_000123.1:p.Arg1985Ter
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