Canonical Allele Identifier: CA414919389
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992947A>T , CM000685.2:g.154992947A>T GRCh38
NC_000023.10:g.154221222A>T , CM000685.1:g.154221222A>T GRCh37
NC_000023.9:g.153874416A>T NCBI36
NG_011403.1:g.34777T>A
NG_011403.2:g.34777T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.590T>A MANE Select ENSP00000353393.4:p.Val197Glu
ENST00000647125.1:c.*376T>A ENSP00000496062.1:n.*376T>A
ENST00000360256.8:c.590T>A ENSP00000353393.4:p.Val197Glu
ENST00000423959.5:c.485T>A ENSP00000409446.1:p.Val162Glu
NM_000132.3:c.590T>A NP_000123.1:p.Val197Glu
XM_011531126.1:c.485T>A XP_011529428.1:p.Val162Glu
NM_000132.4:c.590T>A MANE Select NP_000123.1:p.Val197Glu