Canonical Allele Identifier: CA255082
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10195
dbSNP Id: rs137852404

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969417G>A , CM000685.2:g.154969417G>A GRCh38
NC_000023.10:g.154197692G>A , CM000685.1:g.154197692G>A GRCh37
NC_000023.9:g.153850886G>A NCBI36
NG_011403.1:g.58307C>T
NG_011403.2:g.58307C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.923C>T MANE Select ENSP00000353393.4:p.Ser308Leu
ENST00000647125.1:c.*799C>T ENSP00000496062.1:n.*799C>T
ENST00000360256.8:c.923C>T ENSP00000353393.4:p.Ser308Leu
NM_000132.3:c.923C>T NP_000123.1:p.Ser308Leu
XM_011531126.1:c.818C>T XP_011529428.1:p.Ser273Leu
NM_000132.4:c.923C>T MANE Select NP_000123.1:p.Ser308Leu