Canonical Allele Identifier: CA414901715
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154931360C>G , CM000685.2:g.154931360C>G GRCh38
NC_000023.10:g.154159635C>G , CM000685.1:g.154159635C>G GRCh37
NC_000023.9:g.153812829C>G NCBI36
NG_011403.1:g.96364G>C
NG_011403.2:g.96364G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2430G>C MANE Select ENSP00000353393.4:p.Leu810Phe
ENST00000647125.1:c.*2096G>C ENSP00000496062.1:n.*2096G>C
ENST00000360256.8:c.2430G>C ENSP00000353393.4:p.Leu810Phe
NM_000132.3:c.2430G>C NP_000123.1:p.Leu810Phe
XM_011531126.1:c.2325G>C XP_011529428.1:p.Leu775Phe
NM_000132.4:c.2430G>C MANE Select NP_000123.1:p.Leu810Phe