Canonical Allele Identifier: CA414900052
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 618106
ClinVar RCV Id: RCV000756116
dbSNP Id: rs1190705187

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896186C>T , CM000685.2:g.154896186C>T GRCh38
NC_000023.10:g.154124461C>T , CM000685.1:g.154124461C>T GRCh37
NC_000023.9:g.153777655C>T NCBI36
NG_011403.1:g.131538G>A
NG_011403.2:g.131538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6320G>A MANE Select ENSP00000353393.4:p.Gly2107Asp
ENST00000360256.8:c.6320G>A ENSP00000353393.4:p.Gly2107Asp
NM_000132.3:c.6320G>A NP_000123.1:p.Gly2107Asp
XM_011531126.1:c.6215G>A XP_011529428.1:p.Gly2072Asp
NM_000132.4:c.6320G>A MANE Select NP_000123.1:p.Gly2107Asp