Canonical Allele Identifier: CA414919369
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992938T>G , CM000685.2:g.154992938T>G GRCh38
NC_000023.10:g.154221213T>G , CM000685.1:g.154221213T>G GRCh37
NC_000023.9:g.153874407T>G NCBI36
NG_011403.1:g.34786A>C
NG_011403.2:g.34786A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.599A>C MANE Select ENSP00000353393.4:p.Glu200Ala
ENST00000647125.1:c.*385A>C ENSP00000496062.1:n.*385A>C
ENST00000360256.8:c.599A>C ENSP00000353393.4:p.Glu200Ala
ENST00000423959.5:c.494A>C ENSP00000409446.1:p.Glu165Ala
NM_000132.3:c.599A>C NP_000123.1:p.Glu200Ala
XM_011531126.1:c.494A>C XP_011529428.1:p.Glu165Ala
NM_000132.4:c.599A>C MANE Select NP_000123.1:p.Glu200Ala