Canonical Allele Identifier: CA414906253
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2633302
ClinVar RCV Id: RCV003391546
dbSNP Id: rs1301600876

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904023A>G , CM000685.2:g.154904023A>G GRCh38
NC_000023.10:g.154132298A>G , CM000685.1:g.154132298A>G GRCh37
NC_000023.9:g.153785492A>G NCBI36
NG_011403.1:g.123701T>C
NG_011403.2:g.123701T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5881T>C MANE Select ENSP00000353393.4:p.Trp1961Arg
ENST00000360256.8:c.5881T>C ENSP00000353393.4:p.Trp1961Arg
NM_000132.3:c.5881T>C NP_000123.1:p.Trp1961Arg
XM_011531126.1:c.5776T>C XP_011529428.1:p.Trp1926Arg
NM_000132.4:c.5881T>C MANE Select NP_000123.1:p.Trp1961Arg