Canonical Allele Identifier: CA255226
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10334
ClinVar RCV Id: RCV000011047
dbSNP Id: rs137852474

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837685C>T , CM000685.2:g.154837685C>T GRCh38
NC_000023.10:g.154065960C>T , CM000685.1:g.154065960C>T GRCh37
NC_000023.9:g.153719154C>T NCBI36
NG_011403.1:g.190039G>A
NG_033065.1:g.1978G>A
NG_011403.2:g.190039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6968G>A MANE Select ENSP00000353393.4:p.Arg2323His
ENST00000644698.1:c.701G>A ENSP00000495706.1:p.Arg234His
ENST00000330287.10:c.563G>A ENSP00000327895.6:p.Arg188His
ENST00000360256.8:c.6968G>A ENSP00000353393.4:p.Arg2323His
NM_000132.3:c.6968G>A NP_000123.1:p.Arg2323His
NM_019863.2:c.563G>A NP_063916.1:p.Arg188His
XM_011531126.1:c.6863G>A XP_011529428.1:p.Arg2288His
NM_000132.4:c.6968G>A MANE Select NP_000123.1:p.Arg2323His
NM_019863.3:c.563G>A NP_063916.1:p.Arg188His