Canonical Allele Identifier: CA255114
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10224
dbSNP Id: rs137852417

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957061G>C , CM000685.2:g.154957061G>C GRCh38
NC_000023.10:g.154185336G>C , CM000685.1:g.154185336G>C GRCh37
NC_000023.9:g.153838530G>C NCBI36
NG_011403.1:g.70663C>G
NG_011403.2:g.70663C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1648C>G MANE Select ENSP00000353393.4:p.Arg550Gly
ENST00000647125.1:c.*1524C>G ENSP00000496062.1:n.*1524C>G
ENST00000360256.8:c.1648C>G ENSP00000353393.4:p.Arg550Gly
NM_000132.3:c.1648C>G NP_000123.1:p.Arg550Gly
XM_011531126.1:c.1543C>G XP_011529428.1:p.Arg515Gly
NM_000132.4:c.1648C>G MANE Select NP_000123.1:p.Arg550Gly