Canonical Allele Identifier: CA255185
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10295
ClinVar RCV Id: RCV000011008
dbSNP Id: rs28937294

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904025C>A , CM000685.2:g.154904025C>A GRCh38
NC_000023.10:g.154132300C>A , CM000685.1:g.154132300C>A GRCh37
NC_000023.9:g.153785494C>A NCBI36
NG_011403.1:g.123699G>T
NG_011403.2:g.123699G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5879G>T MANE Select ENSP00000353393.4:p.Arg1960Leu
ENST00000360256.8:c.5879G>T ENSP00000353393.4:p.Arg1960Leu
NM_000132.3:c.5879G>T NP_000123.1:p.Arg1960Leu
XM_011531126.1:c.5774G>T XP_011529428.1:p.Arg1925Leu
NM_000132.4:c.5879G>T MANE Select NP_000123.1:p.Arg1960Leu