Canonical Allele Identifier: CA414918336
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969518C>G , CM000685.2:g.154969518C>G GRCh38
NC_000023.10:g.154197793C>G , CM000685.1:g.154197793C>G GRCh37
NC_000023.9:g.153850987C>G NCBI36
NG_011403.1:g.58206G>C
NG_011403.2:g.58206G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.822G>C MANE Select ENSP00000353393.4:p.Trp274Cys
ENST00000647125.1:c.*698G>C ENSP00000496062.1:n.*698G>C
ENST00000360256.8:c.822G>C ENSP00000353393.4:p.Trp274Cys
NM_000132.3:c.822G>C NP_000123.1:p.Trp274Cys
XM_011531126.1:c.717G>C XP_011529428.1:p.Trp239Cys
NM_000132.4:c.822G>C MANE Select NP_000123.1:p.Trp274Cys