Canonical Allele Identifier: CA255076
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10189
ClinVar RCV Id: RCV000010902
dbSNP Id: rs137852400

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969486A>C , CM000685.2:g.154969486A>C GRCh38
NC_000023.10:g.154197761A>C , CM000685.1:g.154197761A>C GRCh37
NC_000023.9:g.153850955A>C NCBI36
NG_011403.1:g.58238T>G
NG_011403.2:g.58238T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.854T>G MANE Select ENSP00000353393.4:p.Val285Gly
ENST00000647125.1:c.*730T>G ENSP00000496062.1:n.*730T>G
ENST00000360256.8:c.854T>G ENSP00000353393.4:p.Val285Gly
NM_000132.3:c.854T>G NP_000123.1:p.Val285Gly
XM_011531126.1:c.749T>G XP_011529428.1:p.Val250Gly
NM_000132.4:c.854T>G MANE Select NP_000123.1:p.Val285Gly