Canonical Allele Identifier: CA255202
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10309
ClinVar RCV Id: RCV000011022
dbSNP Id: rs137852458

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896146A>C , CM000685.2:g.154896146A>C GRCh38
NC_000023.10:g.154124421A>C , CM000685.1:g.154124421A>C GRCh37
NC_000023.9:g.153777615A>C NCBI36
NG_011403.1:g.131578T>G
NG_011403.2:g.131578T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6360T>G MANE Select ENSP00000353393.4:p.Phe2120Leu
ENST00000360256.8:c.6360T>G ENSP00000353393.4:p.Phe2120Leu
NM_000132.3:c.6360T>G NP_000123.1:p.Phe2120Leu
XM_011531126.1:c.6255T>G XP_011529428.1:p.Phe2085Leu
NM_000132.4:c.6360T>G MANE Select NP_000123.1:p.Phe2120Leu