Canonical Allele Identifier: CA255171
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10282
ClinVar RCV Id: RCV000010995
dbSNP Id: rs28933676
MyVariant Identifiers: chrX:g.154133139T>G (hg19) chrX:g.154904864T>G (hg38)
PubMed: PMID:1639429
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904864T>G , CM000685.2:g.154904864T>G GRCh38
NC_000023.10:g.154133139T>G , CM000685.1:g.154133139T>G GRCh37
NC_000023.9:g.153786333T>G NCBI36
NG_011403.1:g.122860A>C
NG_011403.2:g.122860A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5533A>C MANE Select ENSP00000353393.4:p.Thr1845Pro
ENST00000360256.8:c.5533A>C ENSP00000353393.4:p.Thr1845Pro
NM_000132.3:c.5533A>C NP_000123.1:p.Thr1845Pro
XM_011531126.1:c.5428A>C XP_011529428.1:p.Thr1810Pro
NM_000132.4:c.5533A>C MANE Select NP_000123.1:p.Thr1845Pro
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