Canonical Allele Identifier: CA414911068
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154954006C>G , CM000685.2:g.154954006C>G GRCh38
NC_000023.10:g.154182281C>G , CM000685.1:g.154182281C>G GRCh37
NC_000023.9:g.153835475C>G NCBI36
NG_011403.1:g.73718G>C
NG_011403.2:g.73718G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1789G>C MANE Select ENSP00000353393.4:p.Val597Leu
ENST00000647125.1:c.*1665G>C ENSP00000496062.1:n.*1665G>C
ENST00000360256.8:c.1789G>C ENSP00000353393.4:p.Val597Leu
NM_000132.3:c.1789G>C NP_000123.1:p.Val597Leu
XM_011531126.1:c.1684G>C XP_011529428.1:p.Val562Leu
NM_000132.4:c.1789G>C MANE Select NP_000123.1:p.Val597Leu