Canonical Allele Identifier: CA414906485
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803126
ClinVar RCV Id: RCV002466796
MyVariant Identifiers: chrX:g.154132326T>G (hg19) chrX:g.154904051T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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