Canonical Allele Identifier: CA414911871
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2073368713

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957069C>T , CM000685.2:g.154957069C>T GRCh38
NC_000023.10:g.154185344C>T , CM000685.1:g.154185344C>T GRCh37
NC_000023.9:g.153838538C>T NCBI36
NG_011403.1:g.70655G>A
NG_011403.2:g.70655G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1640G>A MANE Select ENSP00000353393.4:p.Cys547Tyr
ENST00000647125.1:c.*1516G>A ENSP00000496062.1:n.*1516G>A
ENST00000360256.8:c.1640G>A ENSP00000353393.4:p.Cys547Tyr
NM_000132.3:c.1640G>A NP_000123.1:p.Cys547Tyr
XM_011531126.1:c.1535G>A XP_011529428.1:p.Cys512Tyr
NM_000132.4:c.1640G>A MANE Select NP_000123.1:p.Cys547Tyr