Canonical Allele Identifier: CA255098
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10208
ClinVar RCV Id: RCV000010921
dbSNP Id: rs28933670

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966483A>C , CM000685.2:g.154966483A>C GRCh38
NC_000023.10:g.154194758A>C , CM000685.1:g.154194758A>C GRCh37
NC_000023.9:g.153847952A>C NCBI36
NG_011403.1:g.61241T>G
NG_011403.2:g.61241T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1214T>G MANE Select ENSP00000353393.4:p.Ile405Ser
ENST00000647125.1:c.*1090T>G ENSP00000496062.1:n.*1090T>G
ENST00000360256.8:c.1214T>G ENSP00000353393.4:p.Ile405Ser
ENST00000483822.2:n.34T>G
NM_000132.3:c.1214T>G NP_000123.1:p.Ile405Ser
XM_011531126.1:c.1109T>G XP_011529428.1:p.Ile370Ser
NM_000132.4:c.1214T>G MANE Select NP_000123.1:p.Ile405Ser