Canonical Allele Identifier: CA519384108
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997001A>C , CM000685.2:g.154997001A>C GRCh38
NC_000023.10:g.154225276A>C , CM000685.1:g.154225276A>C GRCh37
NC_000023.9:g.153878470A>C NCBI36
NG_011403.1:g.30723T>G
NG_011403.2:g.30723T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.360T>G MANE Select ENSP00000353393.4:p.Val120=
ENST00000647125.1:c.*146T>G ENSP00000496062.1:n.*146T>G
ENST00000360256.8:c.360T>G ENSP00000353393.4:p.Val120=
ENST00000423959.5:c.255T>G ENSP00000409446.1:p.Val85=
ENST00000453950.1:c.342T>G ENSP00000389153.1:p.Val114=
NM_000132.3:c.360T>G NP_000123.1:p.Val120=
XM_011531126.1:c.255T>G XP_011529428.1:p.Val85=
NM_000132.4:c.360T>G MANE Select NP_000123.1:p.Val120=