Canonical Allele Identifier: CA255066
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10177
dbSNP Id: rs137852394

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992996C>T , CM000685.2:g.154992996C>T GRCh38
NC_000023.10:g.154221271C>T , CM000685.1:g.154221271C>T GRCh37
NC_000023.9:g.153874465C>T NCBI36
NG_011403.1:g.34728G>A
NG_011403.2:g.34728G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.541G>A MANE Select ENSP00000353393.4:p.Val181Met
ENST00000647125.1:c.*327G>A ENSP00000496062.1:n.*327G>A
ENST00000360256.8:c.541G>A ENSP00000353393.4:p.Val181Met
ENST00000423959.5:c.436G>A ENSP00000409446.1:p.Val146Met
NM_000132.3:c.541G>A NP_000123.1:p.Val181Met
XM_011531126.1:c.436G>A XP_011529428.1:p.Val146Met
NM_000132.4:c.541G>A MANE Select NP_000123.1:p.Val181Met