Canonical Allele Identifier: CA255031
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10139
ClinVar RCV Id: RCV000010852
dbSNP Id: rs137852368
ExAC: X:154194909 G / A
gnomAD v2: X-154194909-G-A
MyVariant Identifiers: chrX:g.154194909G>A (hg19) chrX:g.154966634G>A (hg38)
ERepo: CA255031/MONDO:0010602/071
PubMed: PMID:2987704
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966634G>A , CM000685.2:g.154966634G>A GRCh38
NC_000023.10:g.154194909G>A , CM000685.1:g.154194909G>A GRCh37
NC_000023.9:g.153848103G>A NCBI36
NG_011403.1:g.61090C>T
NG_011403.2:g.61090C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1063C>T MANE Select ENSP00000353393.4:p.Arg355Ter
ENST00000647125.1:c.*939C>T ENSP00000496062.1:n.*939C>T
ENST00000360256.8:c.1063C>T ENSP00000353393.4:p.Arg355Ter
NM_000132.3:c.1063C>T NP_000123.1:p.Arg355Ter
XM_011531126.1:c.958C>T XP_011529428.1:p.Arg320Ter
NM_000132.4:c.1063C>T MANE Select NP_000123.1:p.Arg355Ter
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