Canonical Allele Identifier: CA255176
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10287
ClinVar RCV Id: RCV000011000
dbSNP Id: rs28933678
COSMIC: COSM275035 COSM275036
MyVariant Identifiers: chrX:g.154132793C>A (hg19) chrX:g.154904518C>A (hg38)
PubMed: PMID:7728145
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904518C>A , CM000685.2:g.154904518C>A GRCh38
NC_000023.10:g.154132793C>A , CM000685.1:g.154132793C>A GRCh37
NC_000023.9:g.153785987C>A NCBI36
NG_011403.1:g.123206G>T
NG_011403.2:g.123206G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5593G>T MANE Select ENSP00000353393.4:p.Asp1865Tyr
ENST00000360256.8:c.5593G>T ENSP00000353393.4:p.Asp1865Tyr
NM_000132.3:c.5593G>T NP_000123.1:p.Asp1865Tyr
XM_011531126.1:c.5488G>T XP_011529428.1:p.Asp1830Tyr
NM_000132.4:c.5593G>T MANE Select NP_000123.1:p.Asp1865Tyr
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