Canonical Allele Identifier: CA414908914
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 618634
ClinVar RCV Id: RCV000757246
dbSNP Id: rs1569559523

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904980G>A , CM000685.2:g.154904980G>A GRCh38
NC_000023.10:g.154133255G>A , CM000685.1:g.154133255G>A GRCh37
NC_000023.9:g.153786449G>A NCBI36
NG_011403.1:g.122744C>T
NG_011403.2:g.122744C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5417C>T MANE Select ENSP00000353393.4:p.Ser1806Phe
ENST00000360256.8:c.5417C>T ENSP00000353393.4:p.Ser1806Phe
NM_000132.3:c.5417C>T NP_000123.1:p.Ser1806Phe
XM_011531126.1:c.5312C>T XP_011529428.1:p.Ser1771Phe
NM_000132.4:c.5417C>T MANE Select NP_000123.1:p.Ser1806Phe