Canonical Allele Identifier: CA414919602
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993048A>T , CM000685.2:g.154993048A>T GRCh38
NC_000023.10:g.154221323A>T , CM000685.1:g.154221323A>T GRCh37
NC_000023.9:g.153874517A>T NCBI36
NG_011403.1:g.34676T>A
NG_011403.2:g.34676T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.489T>A MANE Select ENSP00000353393.4:p.Asn163Lys
ENST00000647125.1:c.*275T>A ENSP00000496062.1:n.*275T>A
ENST00000360256.8:c.489T>A ENSP00000353393.4:p.Asn163Lys
ENST00000423959.5:c.384T>A ENSP00000409446.1:p.Asn128Lys
ENST00000453950.1:c.471T>A ENSP00000389153.1:p.Asn157Lys
NM_000132.3:c.489T>A NP_000123.1:p.Asn163Lys
XM_011531126.1:c.384T>A XP_011529428.1:p.Asn128Lys
NM_000132.4:c.489T>A MANE Select NP_000123.1:p.Asn163Lys