Canonical Allele Identifier: CA10568393
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2627758
ClinVar RCV Id: RCV003389102
dbSNP Id: rs375093700

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953948T>C , CM000685.2:g.154953948T>C GRCh38
NC_000023.10:g.154182223T>C , CM000685.1:g.154182223T>C GRCh37
NC_000023.9:g.153835417T>C NCBI36
NG_011403.1:g.73776A>G
NG_011403.2:g.73776A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1847A>G MANE Select ENSP00000353393.4:p.Asn616Ser
ENST00000647125.1:c.*1723A>G ENSP00000496062.1:n.*1723A>G
ENST00000360256.8:c.1847A>G ENSP00000353393.4:p.Asn616Ser
NM_000132.3:c.1847A>G NP_000123.1:p.Asn616Ser
XM_011531126.1:c.1742A>G XP_011529428.1:p.Asn581Ser
NM_000132.4:c.1847A>G MANE Select NP_000123.1:p.Asn616Ser