Canonical Allele Identifier: CA10653867
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 368126
ClinVar RCV Id: RCV000270687
dbSNP Id: rs1057515826
gnomAD v3: X-155022709-T-C
gnomAD v4: X-155022709-T-C
COSMIC: COSN6494566
MyVariant Identifiers: chrX:g.154250984T>C (hg19) chrX:g.155022709T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022709T>C , CM000685.2:g.155022709T>C GRCh38
NC_000023.10:g.154250984T>C , CM000685.1:g.154250984T>C GRCh37
NC_000023.9:g.153904178T>C NCBI36
NG_011403.1:g.5015A>G
NG_011403.2:g.5015A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.-157A>G MANE Select ENSP00000353393.4:n.-157A>G
ENST00000647125.1:c.-157A>G ENSP00000496062.1:n.-157A>G
ENST00000360256.8:c.-157A>G ENSP00000353393.4:n.-157A>G
ENST00000423959.5:c.38+4071A>G ENSP00000409446.1:n.38+4071A>G
ENST00000453950.1:c.39-213A>G ENSP00000389153.1:n.39-213A>G
NM_000132.3:c.-157A>G NP_000123.1:n.-157A>G
XM_011531126.1:c.38+4071A>G XP_011529428.1:n.38+4071A>G
NM_000132.4:c.-157A>G MANE Select NP_000123.1:n.-157A>G
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