Canonical Allele Identifier: CA519374734
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 627324
ClinVar RCV Id: RCV000852146
dbSNP Id: rs1603433715
MyVariant Identifiers: chrX:g.154156848G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928573G>A , CM000685.2:g.154928573G>A GRCh38
NC_000023.10:g.154156848G>A , CM000685.1:g.154156848G>A GRCh37
NC_000023.9:g.153810042G>A NCBI36
NG_011403.1:g.99151C>T
NG_011403.2:g.99151C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.5217C>T MANE Select ENSP00000353393.4:p.Asn1739=
ENST00000360256.8:c.5217C>T ENSP00000353393.4:p.Asn1739=
NM_000132.3:c.5217C>T NP_000123.1:p.Asn1739=
XM_011531126.1:c.5112C>T XP_011529428.1:p.Asn1704=
NM_000132.4:c.5217C>T MANE Select NP_000123.1:p.Asn1739=