Canonical Allele Identifier: CA414913416
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 627325
ClinVar RCV Id: RCV000852147
dbSNP Id: rs1603433713

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928569A>G , CM000685.2:g.154928569A>G GRCh38
NC_000023.10:g.154156844A>G , CM000685.1:g.154156844A>G GRCh37
NC_000023.9:g.153810038A>G NCBI36
NG_011403.1:g.99155T>C
NG_011403.2:g.99155T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.5219+2T>C MANE Select ENSP00000353393.4:n.5219+2T>C
ENST00000360256.8:c.5219+2T>C ENSP00000353393.4:n.5219+2T>C
NM_000132.3:c.5219+2T>C NP_000123.1:n.5219+2T>C
XM_011531126.1:c.5114+2T>C XP_011529428.1:n.5114+2T>C
NM_000132.4:c.5219+2T>C MANE Select NP_000123.1:n.5219+2T>C