Canonical Allele Identifier: CA414906484
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803219
ClinVar RCV Id: RCV002466889
MyVariant Identifiers: chrX:g.154132326T>A (hg19) chrX:g.154904051T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904051T>A , CM000685.2:g.154904051T>A GRCh38
NC_000023.10:g.154132326T>A , CM000685.1:g.154132326T>A GRCh37
NC_000023.9:g.153785520T>A NCBI36
NG_011403.1:g.123673A>T
NG_011403.2:g.123673A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5853A>T MANE Select ENSP00000353393.4:p.Leu1951Phe
ENST00000360256.8:c.5853A>T ENSP00000353393.4:p.Leu1951Phe
NM_000132.3:c.5853A>T NP_000123.1:p.Leu1951Phe
XM_011531126.1:c.5748A>T XP_011529428.1:p.Leu1916Phe
NM_000132.4:c.5853A>T MANE Select NP_000123.1:p.Leu1951Phe
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