Canonical Allele Identifier: CA519363175
Gene: F8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154194248C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965973C>G , CM000685.2:g.154965973C>G GRCh38
NC_000023.10:g.154194248C>G , CM000685.1:g.154194248C>G GRCh37
NC_000023.9:g.153847442C>G NCBI36
NG_011403.1:g.61751G>C
NG_011403.2:g.61751G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1440G>C MANE Select ENSP00000353393.4:p.Leu480=
ENST00000647125.1:c.*1316G>C ENSP00000496062.1:n.*1316G>C
ENST00000360256.8:c.1440G>C ENSP00000353393.4:p.Leu480=
ENST00000483822.2:n.260G>C
NM_000132.3:c.1440G>C NP_000123.1:p.Leu480=
XM_011531126.1:c.1335G>C XP_011529428.1:p.Leu445=
NM_000132.4:c.1440G>C MANE Select NP_000123.1:p.Leu480=