Canonical Allele Identifier: CA414918144
Gene: F8 HGNC NCBI

Linked Data

COSMIC: COSM4682255 COSM4682256
MyVariant Identifiers: chrX:g.154197747G>T (hg19) chrX:g.154969472G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969472G>T , CM000685.2:g.154969472G>T GRCh38
NC_000023.10:g.154197747G>T , CM000685.1:g.154197747G>T GRCh37
NC_000023.9:g.153850941G>T NCBI36
NG_011403.1:g.58252C>A
NG_011403.2:g.58252C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.868C>A MANE Select ENSP00000353393.4:p.Leu290Ile
ENST00000647125.1:c.*744C>A ENSP00000496062.1:n.*744C>A
ENST00000360256.8:c.868C>A ENSP00000353393.4:p.Leu290Ile
NM_000132.3:c.868C>A NP_000123.1:p.Leu290Ile
XM_011531126.1:c.763C>A XP_011529428.1:p.Leu255Ile
NM_000132.4:c.868C>A MANE Select NP_000123.1:p.Leu290Ile
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