Canonical Allele Identifier: CA337327278
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10265
ClinVar RCV Id: RCV000010978
dbSNP Id: rs137852438

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928890C>A , CM000685.2:g.154928890C>A GRCh38
NC_000023.10:g.154157165C>A , CM000685.1:g.154157165C>A GRCh37
NC_000023.9:g.153810359C>A NCBI36
NG_011403.1:g.98834G>T
NG_011403.2:g.98834G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.4900G>T MANE Select ENSP00000353393.4:p.Glu1634Ter
ENST00000360256.8:c.4900G>T ENSP00000353393.4:p.Glu1634Ter
NM_000132.3:c.4900G>T NP_000123.1:p.Glu1634Ter
XM_011531126.1:c.4795G>T XP_011529428.1:p.Glu1599Ter
NM_000132.4:c.4900G>T MANE Select NP_000123.1:p.Glu1634Ter