Canonical Allele Identifier: CA10567975
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685788
ClinVar RCV Id: RCV002249955
dbSNP Id: rs782123880
ExAC: X:154133291 A / T
gnomAD v2: X-154133291-A-T
gnomAD v3: X-154905016-A-T
gnomAD v4: X-154905016-A-T
MyVariant Identifiers: chrX:g.154133291A>T (hg19) chrX:g.154905016A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154905016A>T , CM000685.2:g.154905016A>T GRCh38
NC_000023.10:g.154133291A>T , CM000685.1:g.154133291A>T GRCh37
NC_000023.9:g.153786485A>T NCBI36
NG_011403.1:g.122708T>A
NG_011403.2:g.122708T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5381T>A MANE Select ENSP00000353393.4:p.Phe1794Tyr
ENST00000360256.8:c.5381T>A ENSP00000353393.4:p.Phe1794Tyr
NM_000132.3:c.5381T>A NP_000123.1:p.Phe1794Tyr
XM_011531126.1:c.5276T>A XP_011529428.1:p.Phe1759Tyr
NM_000132.4:c.5381T>A MANE Select NP_000123.1:p.Phe1794Tyr
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