Canonical Allele Identifier: CA255113
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10223
ClinVar RCV Id: RCV000010936
dbSNP Id: rs137852417

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1648C>T MANE Select ENSP00000353393.4:p.Arg550Cys
ENST00000647125.1:c.*1524C>T ENSP00000496062.1:p.=
ENST00000360256.8:c.1648C>T ENSP00000353393.4:p.Arg550Cys
NM_000132.3:c.1648C>T NP_000123.1:p.Arg550Cys
XM_011531126.1:c.1543C>T XP_011529428.1:p.Arg515Cys
NM_000132.4:c.1648C>T MANE Select NP_000123.1:p.Arg550Cys