Canonical Allele Identifier: CA414920637
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022503C>A , CM000685.2:g.155022503C>A GRCh38
NC_000023.10:g.154250778C>A , CM000685.1:g.154250778C>A GRCh37
NC_000023.9:g.153903972C>A NCBI36
NG_011403.1:g.5221G>T
NG_011403.2:g.5221G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.50G>T MANE Select ENSP00000353393.4:p.Cys17Phe
ENST00000647125.1:c.50G>T ENSP00000496062.1:p.Cys17Phe
ENST00000360256.8:c.50G>T ENSP00000353393.4:p.Cys17Phe
ENST00000423959.5:c.38+4277G>T ENSP00000409446.1:n.38+4277G>T
ENST00000453950.1:c.39-7G>T ENSP00000389153.1:n.39-7G>T
NM_000132.3:c.50G>T NP_000123.1:p.Cys17Phe
XM_011531126.1:c.38+4277G>T XP_011529428.1:n.38+4277G>T
NM_000132.4:c.50G>T MANE Select NP_000123.1:p.Cys17Phe