Canonical Allele Identifier: CA414905803
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2920840
ClinVar RCV Id: RCV003736406
dbSNP Id: rs2073023240

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903963C>T , CM000685.2:g.154903963C>T GRCh38
NC_000023.10:g.154132238C>T , CM000685.1:g.154132238C>T GRCh37
NC_000023.9:g.153785432C>T NCBI36
NG_011403.1:g.123761G>A
NG_011403.2:g.123761G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5941G>A MANE Select ENSP00000353393.4:p.Val1981Met
ENST00000360256.8:c.5941G>A ENSP00000353393.4:p.Val1981Met
NM_000132.3:c.5941G>A NP_000123.1:p.Val1981Met
XM_011531126.1:c.5836G>A XP_011529428.1:p.Val1946Met
NM_000132.4:c.5941G>A MANE Select NP_000123.1:p.Val1981Met