Canonical Allele Identifier: CA255228
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10352
ClinVar RCV Id: RCV000011065
dbSNP Id: rs137852476

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022449T>C , CM000685.2:g.155022449T>C GRCh38
NC_000023.10:g.154250724T>C , CM000685.1:g.154250724T>C GRCh37
NC_000023.9:g.153903918T>C NCBI36
NG_011403.1:g.5275A>G
NG_011403.2:g.5275A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.104A>G MANE Select ENSP00000353393.4:p.Tyr35Cys
ENST00000647125.1:c.104A>G ENSP00000496062.1:p.Tyr35Cys
ENST00000360256.8:c.104A>G ENSP00000353393.4:p.Tyr35Cys
ENST00000423959.5:c.38+4331A>G ENSP00000409446.1:n.38+4331A>G
ENST00000453950.1:c.86A>G ENSP00000389153.1:p.Tyr29Cys
NM_000132.3:c.104A>G NP_000123.1:p.Tyr35Cys
XM_011531126.1:c.38+4331A>G XP_011529428.1:n.38+4331A>G
NM_000132.4:c.104A>G MANE Select NP_000123.1:p.Tyr35Cys