Canonical Allele Identifier: CA414908821
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 988839
ClinVar RCV Id: RCV001270538
dbSNP Id: rs2073030462

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904956T>A , CM000685.2:g.154904956T>A GRCh38
NC_000023.10:g.154133231T>A , CM000685.1:g.154133231T>A GRCh37
NC_000023.9:g.153786425T>A NCBI36
NG_011403.1:g.122768A>T
NG_011403.2:g.122768A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5441A>T MANE Select ENSP00000353393.4:p.Asp1814Val
ENST00000360256.8:c.5441A>T ENSP00000353393.4:p.Asp1814Val
NM_000132.3:c.5441A>T NP_000123.1:p.Asp1814Val
XM_011531126.1:c.5336A>T XP_011529428.1:p.Asp1779Val
NM_000132.4:c.5441A>T MANE Select NP_000123.1:p.Asp1814Val