Canonical Allele Identifier: CA255128
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10235
ClinVar RCV Id: RCV000010948
dbSNP Id: rs137852427

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953981T>G , CM000685.2:g.154953981T>G GRCh38
NC_000023.10:g.154182256T>G , CM000685.1:g.154182256T>G GRCh37
NC_000023.9:g.153835450T>G NCBI36
NG_011403.1:g.73743A>C
NG_011403.2:g.73743A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1814A>C MANE Select ENSP00000353393.4:p.Tyr605Ser
ENST00000647125.1:c.*1690A>C ENSP00000496062.1:n.*1690A>C
ENST00000360256.8:c.1814A>C ENSP00000353393.4:p.Tyr605Ser
NM_000132.3:c.1814A>C NP_000123.1:p.Tyr605Ser
XM_011531126.1:c.1709A>C XP_011529428.1:p.Tyr570Ser
NM_000132.4:c.1814A>C MANE Select NP_000123.1:p.Tyr605Ser