Canonical Allele Identifier: CA414909202
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154947754G>C , CM000685.2:g.154947754G>C GRCh38
NC_000023.10:g.154176029G>C , CM000685.1:g.154176029G>C GRCh37
NC_000023.9:g.153829223G>C NCBI36
NG_011403.1:g.79970C>G
NG_011403.2:g.79970C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2057C>G MANE Select ENSP00000353393.4:p.Thr686Arg
ENST00000647125.1:c.*1779+6138C>G ENSP00000496062.1:n.*1779+6138C>G
ENST00000360256.8:c.2057C>G ENSP00000353393.4:p.Thr686Arg
NM_000132.3:c.2057C>G NP_000123.1:p.Thr686Arg
XM_011531126.1:c.1952C>G XP_011529428.1:p.Thr651Arg
NM_000132.4:c.2057C>G MANE Select NP_000123.1:p.Thr686Arg