Canonical Allele Identifier: CA414914419
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965999G>T , CM000685.2:g.154965999G>T GRCh38
NC_000023.10:g.154194274G>T , CM000685.1:g.154194274G>T GRCh37
NC_000023.9:g.153847468G>T NCBI36
NG_011403.1:g.61725C>A
NG_011403.2:g.61725C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1414C>A MANE Select ENSP00000353393.4:p.Leu472Ile
ENST00000647125.1:c.*1290C>A ENSP00000496062.1:n.*1290C>A
ENST00000360256.8:c.1414C>A ENSP00000353393.4:p.Leu472Ile
ENST00000483822.2:n.234C>A
NM_000132.3:c.1414C>A NP_000123.1:p.Leu472Ile
XM_011531126.1:c.1309C>A XP_011529428.1:p.Leu437Ile
NM_000132.4:c.1414C>A MANE Select NP_000123.1:p.Leu472Ile