Canonical Allele Identifier: CA414919947
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997009G>T , CM000685.2:g.154997009G>T GRCh38
NC_000023.10:g.154225284G>T , CM000685.1:g.154225284G>T GRCh37
NC_000023.9:g.153878478G>T NCBI36
NG_011403.1:g.30715C>A
NG_011403.2:g.30715C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.352C>A MANE Select ENSP00000353393.4:p.His118Asn
ENST00000647125.1:c.*138C>A ENSP00000496062.1:n.*138C>A
ENST00000360256.8:c.352C>A ENSP00000353393.4:p.His118Asn
ENST00000423959.5:c.247C>A ENSP00000409446.1:p.His83Asn
ENST00000453950.1:c.334C>A ENSP00000389153.1:p.His112Asn
NM_000132.3:c.352C>A NP_000123.1:p.His118Asn
XM_011531126.1:c.247C>A XP_011529428.1:p.His83Asn
NM_000132.4:c.352C>A MANE Select NP_000123.1:p.His118Asn