Canonical Allele Identifier: CA255033
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10140
ClinVar RCV Id: RCV000010853
dbSNP Id: rs137852369

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904083T>C , CM000685.2:g.154904083T>C GRCh38
NC_000023.10:g.154132358T>C , CM000685.1:g.154132358T>C GRCh37
NC_000023.9:g.153785552T>C NCBI36
NG_011403.1:g.123641A>G
NG_011403.2:g.123641A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5821A>G MANE Select ENSP00000353393.4:p.Asn1941Asp
ENST00000360256.8:c.5821A>G ENSP00000353393.4:p.Asn1941Asp
NM_000132.3:c.5821A>G NP_000123.1:p.Asn1941Asp
XM_011531126.1:c.5716A>G XP_011529428.1:p.Asn1906Asp
NM_000132.4:c.5821A>G MANE Select NP_000123.1:p.Asn1941Asp