Canonical Allele Identifier: CA255057
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10168
ClinVar RCV Id: RCV000010881
dbSNP Id: rs137852385

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997033T>C , CM000685.2:g.154997033T>C GRCh38
NC_000023.10:g.154225308T>C , CM000685.1:g.154225308T>C GRCh37
NC_000023.9:g.153878502T>C NCBI36
NG_011403.1:g.30691A>G
NG_011403.2:g.30691A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.328A>G MANE Select ENSP00000353393.4:p.Met110Val
ENST00000647125.1:c.*114A>G ENSP00000496062.1:p.=
ENST00000360256.8:c.328A>G ENSP00000353393.4:p.Met110Val
ENST00000423959.5:c.223A>G ENSP00000409446.1:p.Met75Val
ENST00000453950.1:c.310A>G ENSP00000389153.1:p.Met104Val
NM_000132.3:c.328A>G NP_000123.1:p.Met110Val
XM_011531126.1:c.223A>G XP_011529428.1:p.Met75Val
NM_000132.4:c.328A>G MANE Select NP_000123.1:p.Met110Val