Canonical Allele Identifier: CA414900025
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683561
ClinVar RCV Id: RCV003480381

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896180C>G , CM000685.2:g.154896180C>G GRCh38
NC_000023.10:g.154124455C>G , CM000685.1:g.154124455C>G GRCh37
NC_000023.9:g.153777649C>G NCBI36
NG_011403.1:g.131544G>C
NG_011403.2:g.131544G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6326G>C MANE Select ENSP00000353393.4:p.Arg2109Pro
ENST00000360256.8:c.6326G>C ENSP00000353393.4:p.Arg2109Pro
NM_000132.3:c.6326G>C NP_000123.1:p.Arg2109Pro
XM_011531126.1:c.6221G>C XP_011529428.1:p.Arg2074Pro
NM_000132.4:c.6326G>C MANE Select NP_000123.1:p.Arg2109Pro