Canonical Allele Identifier: CA255116
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10226
dbSNP Id: rs137852419

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957049T>C , CM000685.2:g.154957049T>C GRCh38
NC_000023.10:g.154185324T>C , CM000685.1:g.154185324T>C GRCh37
NC_000023.9:g.153838518T>C NCBI36
NG_011403.1:g.70675A>G
NG_011403.2:g.70675A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1660A>G MANE Select ENSP00000353393.4:p.Ser554Gly
ENST00000647125.1:c.*1536A>G ENSP00000496062.1:n.*1536A>G
ENST00000360256.8:c.1660A>G ENSP00000353393.4:p.Ser554Gly
NM_000132.3:c.1660A>G NP_000123.1:p.Ser554Gly
XM_011531126.1:c.1555A>G XP_011529428.1:p.Ser519Gly
NM_000132.4:c.1660A>G MANE Select NP_000123.1:p.Ser554Gly