Canonical Allele Identifier: CA337334224
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705974
ClinVar RCV Id: RCV002284348
dbSNP Id: rs137852412

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154961137T>C , CM000685.2:g.154961137T>C GRCh38
NC_000023.10:g.154189412T>C , CM000685.1:g.154189412T>C GRCh37
NC_000023.9:g.153842606T>C NCBI36
NG_011403.1:g.66587A>G
NG_011403.2:g.66587A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1475A>G MANE Select ENSP00000353393.4:p.Tyr492Cys
ENST00000647125.1:c.*1351A>G ENSP00000496062.1:n.*1351A>G
ENST00000360256.8:c.1475A>G ENSP00000353393.4:p.Tyr492Cys
NM_000132.3:c.1475A>G NP_000123.1:p.Tyr492Cys
XM_011531126.1:c.1370A>G XP_011529428.1:p.Tyr457Cys
NM_000132.4:c.1475A>G MANE Select NP_000123.1:p.Tyr492Cys