Canonical Allele Identifier: CA414918446
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969541A>G , CM000685.2:g.154969541A>G GRCh38
NC_000023.10:g.154197816A>G , CM000685.1:g.154197816A>G GRCh37
NC_000023.9:g.153851010A>G NCBI36
NG_011403.1:g.58183T>C
NG_011403.2:g.58183T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.799T>C MANE Select ENSP00000353393.4:p.Cys267Arg
ENST00000647125.1:c.*675T>C ENSP00000496062.1:n.*675T>C
ENST00000360256.8:c.799T>C ENSP00000353393.4:p.Cys267Arg
NM_000132.3:c.799T>C NP_000123.1:p.Cys267Arg
XM_011531126.1:c.694T>C XP_011529428.1:p.Cys232Arg
NM_000132.4:c.799T>C MANE Select NP_000123.1:p.Cys267Arg