Canonical Allele Identifier: CA414912217
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957141A>C , CM000685.2:g.154957141A>C GRCh38
NC_000023.10:g.154185416A>C , CM000685.1:g.154185416A>C GRCh37
NC_000023.9:g.153838610A>C NCBI36
NG_011403.1:g.70583T>G
NG_011403.2:g.70583T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1568T>G MANE Select ENSP00000353393.4:p.Leu523Arg
ENST00000647125.1:c.*1444T>G ENSP00000496062.1:n.*1444T>G
ENST00000360256.8:c.1568T>G ENSP00000353393.4:p.Leu523Arg
NM_000132.3:c.1568T>G NP_000123.1:p.Leu523Arg
XM_011531126.1:c.1463T>G XP_011529428.1:p.Leu488Arg
NM_000132.4:c.1568T>G MANE Select NP_000123.1:p.Leu523Arg