Canonical Allele Identifier: CA414905820
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 618112
ClinVar RCV Id: RCV000756123
dbSNP Id: rs1569559516

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903965T>C , CM000685.2:g.154903965T>C GRCh38
NC_000023.10:g.154132240T>C , CM000685.1:g.154132240T>C GRCh37
NC_000023.9:g.153785434T>C NCBI36
NG_011403.1:g.123759A>G
NG_011403.2:g.123759A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5939A>G MANE Select ENSP00000353393.4:p.His1980Arg
ENST00000360256.8:c.5939A>G ENSP00000353393.4:p.His1980Arg
NM_000132.3:c.5939A>G NP_000123.1:p.His1980Arg
XM_011531126.1:c.5834A>G XP_011529428.1:p.His1945Arg
NM_000132.4:c.5939A>G MANE Select NP_000123.1:p.His1980Arg