Canonical Allele Identifier: CA10568394
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050180
ClinVar RCV Id: RCV001357195 RCV002471095
dbSNP Id: rs782473762
ExAC: X:154182235 C / T
gnomAD v2: X-154182235-C-T
gnomAD v3: X-154953960-C-T
gnomAD v4: X-154953960-C-T
MyVariant Identifiers: chrX:g.154182235C>T (hg19) chrX:g.154953960C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953960C>T , CM000685.2:g.154953960C>T GRCh38
NC_000023.10:g.154182235C>T , CM000685.1:g.154182235C>T GRCh37
NC_000023.9:g.153835429C>T NCBI36
NG_011403.1:g.73764G>A
NG_011403.2:g.73764G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1835G>A MANE Select ENSP00000353393.4:p.Arg612His
ENST00000647125.1:c.*1711G>A ENSP00000496062.1:n.*1711G>A
ENST00000360256.8:c.1835G>A ENSP00000353393.4:p.Arg612His
NM_000132.3:c.1835G>A NP_000123.1:p.Arg612His
XM_011531126.1:c.1730G>A XP_011529428.1:p.Arg577His
NM_000132.4:c.1835G>A MANE Select NP_000123.1:p.Arg612His
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