Canonical Allele Identifier: CA519358851
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 914373
ClinVar RCV Id: RCV001168508
dbSNP Id: rs1369480074
gnomAD v3: X-154957122-T-C
gnomAD v4: X-154957122-T-C
MyVariant Identifiers: chrX:g.154185397T>C (hg19) chrX:g.154957122T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957122T>C , CM000685.2:g.154957122T>C GRCh38
NC_000023.10:g.154185397T>C , CM000685.1:g.154185397T>C GRCh37
NC_000023.9:g.153838591T>C NCBI36
NG_011403.1:g.70602A>G
NG_011403.2:g.70602A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1587A>G MANE Select ENSP00000353393.4:p.Lys529=
ENST00000647125.1:c.*1463A>G ENSP00000496062.1:n.*1463A>G
ENST00000360256.8:c.1587A>G ENSP00000353393.4:p.Lys529=
NM_000132.3:c.1587A>G NP_000123.1:p.Lys529=
XM_011531126.1:c.1482A>G XP_011529428.1:p.Lys494=
NM_000132.4:c.1587A>G MANE Select NP_000123.1:p.Lys529=
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