Canonical Allele Identifier: CA255017
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10099
ClinVar RCV Id: RCV000010811
dbSNP Id: rs137852359

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969468T>C , CM000685.2:g.154969468T>C GRCh38
NC_000023.10:g.154197743T>C , CM000685.1:g.154197743T>C GRCh37
NC_000023.9:g.153850937T>C NCBI36
NG_011403.1:g.58256A>G
NG_011403.2:g.58256A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.872A>G MANE Select ENSP00000353393.4:p.Glu291Gly
ENST00000647125.1:c.*748A>G ENSP00000496062.1:p.=
ENST00000360256.8:c.872A>G ENSP00000353393.4:p.Glu291Gly
NM_000132.3:c.872A>G NP_000123.1:p.Glu291Gly
XM_011531126.1:c.767A>G XP_011529428.1:p.Glu256Gly
NM_000132.4:c.872A>G MANE Select NP_000123.1:p.Glu291Gly