Canonical Allele Identifier: CA414920631
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022500A>C , CM000685.2:g.155022500A>C GRCh38
NC_000023.10:g.154250775A>C , CM000685.1:g.154250775A>C GRCh37
NC_000023.9:g.153903969A>C NCBI36
NG_011403.1:g.5224T>G
NG_011403.2:g.5224T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.53T>G MANE Select ENSP00000353393.4:p.Phe18Cys
ENST00000647125.1:c.53T>G ENSP00000496062.1:p.Phe18Cys
ENST00000360256.8:c.53T>G ENSP00000353393.4:p.Phe18Cys
ENST00000423959.5:c.38+4280T>G ENSP00000409446.1:n.38+4280T>G
ENST00000453950.1:c.39-4T>G ENSP00000389153.1:n.39-4T>G
NM_000132.3:c.53T>G NP_000123.1:p.Phe18Cys
XM_011531126.1:c.38+4280T>G XP_011529428.1:n.38+4280T>G
NM_000132.4:c.53T>G MANE Select NP_000123.1:p.Phe18Cys