Canonical Allele Identifier: CA255058
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10169
ClinVar RCV Id: RCV000010882
dbSNP Id: rs137852386

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997011A>C , CM000685.2:g.154997011A>C GRCh38
NC_000023.10:g.154225286A>C , CM000685.1:g.154225286A>C GRCh37
NC_000023.9:g.153878480A>C NCBI36
NG_011403.1:g.30713T>G
NG_011403.2:g.30713T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.350T>G MANE Select ENSP00000353393.4:p.Leu117Arg
ENST00000647125.1:c.*136T>G ENSP00000496062.1:n.*136T>G
ENST00000360256.8:c.350T>G ENSP00000353393.4:p.Leu117Arg
ENST00000423959.5:c.245T>G ENSP00000409446.1:p.Leu82Arg
ENST00000453950.1:c.332T>G ENSP00000389153.1:p.Leu111Arg
NM_000132.3:c.350T>G NP_000123.1:p.Leu117Arg
XM_011531126.1:c.245T>G XP_011529428.1:p.Leu82Arg
NM_000132.4:c.350T>G MANE Select NP_000123.1:p.Leu117Arg