Canonical Allele Identifier: CA10568309
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 368121
ClinVar RCV Id: RCV000298078
dbSNP Id: rs200316756

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154931255G>T , CM000685.2:g.154931255G>T GRCh38
NC_000023.10:g.154159530G>T , CM000685.1:g.154159530G>T GRCh37
NC_000023.9:g.153812724G>T NCBI36
NG_011403.1:g.96469C>A
NG_011403.2:g.96469C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2535C>A MANE Select ENSP00000353393.4:p.Asp845Glu
ENST00000647125.1:c.*2201C>A ENSP00000496062.1:n.*2201C>A
ENST00000360256.8:c.2535C>A ENSP00000353393.4:p.Asp845Glu
NM_000132.3:c.2535C>A NP_000123.1:p.Asp845Glu
XM_011531126.1:c.2430C>A XP_011529428.1:p.Asp810Glu
NM_000132.4:c.2535C>A MANE Select NP_000123.1:p.Asp845Glu