Canonical Allele Identifier: CA414908615
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 811877
ClinVar RCV Id: RCV001002324
dbSNP Id: rs1603432996
MyVariant Identifiers: chrX:g.154133145C>T (hg19) chrX:g.154904870C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904870C>T , CM000685.2:g.154904870C>T GRCh38
NC_000023.10:g.154133145C>T , CM000685.1:g.154133145C>T GRCh37
NC_000023.9:g.153786339C>T NCBI36
NG_011403.1:g.122854G>A
NG_011403.2:g.122854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5527G>A MANE Select ENSP00000353393.4:p.Ala1843Thr
ENST00000360256.8:c.5527G>A ENSP00000353393.4:p.Ala1843Thr
NM_000132.3:c.5527G>A NP_000123.1:p.Ala1843Thr
XM_011531126.1:c.5422G>A XP_011529428.1:p.Ala1808Thr
NM_000132.4:c.5527G>A MANE Select NP_000123.1:p.Ala1843Thr
Search 100 bp 5'
Search 100 bp 3'