Canonical Allele Identifier: CA414899722
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803181
ClinVar RCV Id: RCV002466851

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896144A>T , CM000685.2:g.154896144A>T GRCh38
NC_000023.10:g.154124419A>T , CM000685.1:g.154124419A>T GRCh37
NC_000023.9:g.153777613A>T NCBI36
NG_011403.1:g.131580T>A
NG_011403.2:g.131580T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6362T>A MANE Select ENSP00000353393.4:p.Ile2121Asn
ENST00000360256.8:c.6362T>A ENSP00000353393.4:p.Ile2121Asn
NM_000132.3:c.6362T>A NP_000123.1:p.Ile2121Asn
XM_011531126.1:c.6257T>A XP_011529428.1:p.Ile2086Asn
NM_000132.4:c.6362T>A MANE Select NP_000123.1:p.Ile2121Asn