Canonical Allele Identifier: CA255060
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10171
ClinVar RCV Id: RCV000010884
dbSNP Id: rs137852388

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993141T>G , CM000685.2:g.154993141T>G GRCh38
NC_000023.10:g.154221416T>G , CM000685.1:g.154221416T>G GRCh37
NC_000023.9:g.153874610T>G NCBI36
NG_011403.1:g.34583A>C
NG_011403.2:g.34583A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.396A>C MANE Select ENSP00000353393.4:p.Glu132Asp
ENST00000647125.1:c.*182A>C ENSP00000496062.1:p.=
ENST00000360256.8:c.396A>C ENSP00000353393.4:p.Glu132Asp
ENST00000423959.5:c.291A>C ENSP00000409446.1:p.Glu97Asp
ENST00000453950.1:c.378A>C ENSP00000389153.1:p.Glu126Asp
NM_000132.3:c.396A>C NP_000123.1:p.Glu132Asp
XM_011531126.1:c.291A>C XP_011529428.1:p.Glu97Asp
NM_000132.4:c.396A>C MANE Select NP_000123.1:p.Glu132Asp