Canonical Allele Identifier: CA414917790
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969388G>C , CM000685.2:g.154969388G>C GRCh38
NC_000023.10:g.154197663G>C , CM000685.1:g.154197663G>C GRCh37
NC_000023.9:g.153850857G>C NCBI36
NG_011403.1:g.58336C>G
NG_011403.2:g.58336C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.952C>G MANE Select ENSP00000353393.4:p.Leu318Val
ENST00000647125.1:c.*828C>G ENSP00000496062.1:n.*828C>G
ENST00000360256.8:c.952C>G ENSP00000353393.4:p.Leu318Val
NM_000132.3:c.952C>G NP_000123.1:p.Leu318Val
XM_011531126.1:c.847C>G XP_011529428.1:p.Leu283Val
NM_000132.4:c.952C>G MANE Select NP_000123.1:p.Leu318Val