Canonical Allele Identifier: CA255211
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10318
ClinVar RCV Id: RCV000011031
dbSNP Id: rs137852464

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863125G>A , CM000685.2:g.154863125G>A GRCh38
NC_000023.10:g.154091400G>A , CM000685.1:g.154091400G>A GRCh37
NC_000023.9:g.153744594G>A NCBI36
NG_011403.1:g.164599C>T
NG_011403.2:g.164599C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6532C>T MANE Select ENSP00000353393.4:p.Arg2178Cys
ENST00000644698.1:c.265C>T ENSP00000495706.1:p.Arg89Cys
ENST00000330287.10:c.127C>T ENSP00000327895.6:p.Arg43Cys
ENST00000360256.8:c.6532C>T ENSP00000353393.4:p.Arg2178Cys
NM_000132.3:c.6532C>T NP_000123.1:p.Arg2178Cys
NM_019863.2:c.127C>T NP_063916.1:p.Arg43Cys
XM_011531126.1:c.6427C>T XP_011529428.1:p.Arg2143Cys
NM_000132.4:c.6532C>T MANE Select NP_000123.1:p.Arg2178Cys
NM_019863.3:c.127C>T NP_063916.1:p.Arg43Cys