Canonical Allele Identifier: CA255016
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10098
dbSNP Id: rs137852358

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154861758C>T , CM000685.2:g.154861758C>T GRCh38
NC_000023.10:g.154090033C>T , CM000685.1:g.154090033C>T GRCh37
NC_000023.9:g.153743227C>T NCBI36
NG_011403.1:g.165966G>A
NG_011403.2:g.165966G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6683G>A MANE Select ENSP00000353393.4:p.Arg2228Gln
ENST00000644698.1:c.416G>A ENSP00000495706.1:p.Arg139Gln
ENST00000330287.10:c.278G>A ENSP00000327895.6:p.Arg93Gln
ENST00000360256.8:c.6683G>A ENSP00000353393.4:p.Arg2228Gln
NM_000132.3:c.6683G>A NP_000123.1:p.Arg2228Gln
NM_019863.2:c.278G>A NP_063916.1:p.Arg93Gln
XM_011531126.1:c.6578G>A XP_011529428.1:p.Arg2193Gln
NM_000132.4:c.6683G>A MANE Select NP_000123.1:p.Arg2228Gln
NM_019863.3:c.278G>A NP_063916.1:p.Arg93Gln