Canonical Allele Identifier: CA414906727
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705972
ClinVar RCV Id: RCV002284346
MyVariant Identifiers: chrX:g.154132363G>T (hg19) chrX:g.154904088G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904088G>T , CM000685.2:g.154904088G>T GRCh38
NC_000023.10:g.154132363G>T , CM000685.1:g.154132363G>T GRCh37
NC_000023.9:g.153785557G>T NCBI36
NG_011403.1:g.123636C>A
NG_011403.2:g.123636C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.5816C>A MANE Select ENSP00000353393.4:p.Ala1939Glu
ENST00000360256.8:c.5816C>A ENSP00000353393.4:p.Ala1939Glu
NM_000132.3:c.5816C>A NP_000123.1:p.Ala1939Glu
XM_011531126.1:c.5711C>A XP_011529428.1:p.Ala1904Glu
NM_000132.4:c.5816C>A MANE Select NP_000123.1:p.Ala1939Glu
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