Canonical Allele Identifier: CA414909237
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154947763T>A , CM000685.2:g.154947763T>A GRCh38
NC_000023.10:g.154176038T>A , CM000685.1:g.154176038T>A GRCh37
NC_000023.9:g.153829232T>A NCBI36
NG_011403.1:g.79961A>T
NG_011403.2:g.79961A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2048A>T MANE Select ENSP00000353393.4:p.Tyr683Phe
ENST00000647125.1:c.*1779+6129A>T ENSP00000496062.1:n.*1779+6129A>T
ENST00000360256.8:c.2048A>T ENSP00000353393.4:p.Tyr683Phe
NM_000132.3:c.2048A>T NP_000123.1:p.Tyr683Phe
XM_011531126.1:c.1943A>T XP_011529428.1:p.Tyr648Phe
NM_000132.4:c.2048A>T MANE Select NP_000123.1:p.Tyr683Phe