Canonical Allele Identifier: CA255165
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10277
ClinVar RCV Id: RCV000010990
dbSNP Id: rs137852444
MyVariant Identifiers: chrX:g.154133264G>T (hg19) chrX:g.154904989G>T (hg38)
PubMed: PMID:1908096
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904989G>T , CM000685.2:g.154904989G>T GRCh38
NC_000023.10:g.154133264G>T , CM000685.1:g.154133264G>T GRCh37
NC_000023.9:g.153786458G>T NCBI36
NG_011403.1:g.122735C>A
NG_011403.2:g.122735C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5408C>A MANE Select ENSP00000353393.4:p.Ser1803Tyr
ENST00000360256.8:c.5408C>A ENSP00000353393.4:p.Ser1803Tyr
NM_000132.3:c.5408C>A NP_000123.1:p.Ser1803Tyr
XM_011531126.1:c.5303C>A XP_011529428.1:p.Ser1768Tyr
NM_000132.4:c.5408C>A MANE Select NP_000123.1:p.Ser1803Tyr
Search 100 bp 5'
Search 100 bp 3'