Canonical Allele Identifier: CA255103
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10213
ClinVar RCV Id: RCV000010926
dbSNP Id: rs111033616

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966065A>T , CM000685.2:g.154966065A>T GRCh38
NC_000023.10:g.154194340A>T , CM000685.1:g.154194340A>T GRCh37
NC_000023.9:g.153847534A>T NCBI36
NG_011403.1:g.61659T>A
NG_011403.2:g.61659T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1348T>A MANE Select ENSP00000353393.4:p.Tyr450Asn
ENST00000647125.1:c.*1224T>A ENSP00000496062.1:n.*1224T>A
ENST00000360256.8:c.1348T>A ENSP00000353393.4:p.Tyr450Asn
ENST00000483822.2:n.168T>A
NM_000132.3:c.1348T>A NP_000123.1:p.Tyr450Asn
XM_011531126.1:c.1243T>A XP_011529428.1:p.Tyr415Asn
NM_000132.4:c.1348T>A MANE Select NP_000123.1:p.Tyr450Asn