Canonical Allele Identifier: CA414913739
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172825
ClinVar RCV Id: RCV001796578 RCV002466680
dbSNP Id: rs2073172888
MyVariant Identifiers: chrX:g.154156919G>T (hg19) chrX:g.154928644G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928644G>T , CM000685.2:g.154928644G>T GRCh38
NC_000023.10:g.154156919G>T , CM000685.1:g.154156919G>T GRCh37
NC_000023.9:g.153810113G>T NCBI36
NG_011403.1:g.99080C>A
NG_011403.2:g.99080C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5146C>A MANE Select ENSP00000353393.4:p.His1716Asn
ENST00000360256.8:c.5146C>A ENSP00000353393.4:p.His1716Asn
NM_000132.3:c.5146C>A NP_000123.1:p.His1716Asn
XM_011531126.1:c.5041C>A XP_011529428.1:p.His1681Asn
NM_000132.4:c.5146C>A MANE Select NP_000123.1:p.His1716Asn
Search 100 bp 5'
Search 100 bp 3'