Canonical Allele Identifier: CA10567972
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 699078
ClinVar RCV Id: RCV000866764 RCV001289575
dbSNP Id: rs142177821
ExAC: X:154133242 A / C
gnomAD v2: X-154133242-A-C
gnomAD v3: X-154904967-A-C
gnomAD v4: X-154904967-A-C
MyVariant Identifiers: chrX:g.154133242A>C (hg19) chrX:g.154904967A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904967A>C , CM000685.2:g.154904967A>C GRCh38
NC_000023.10:g.154133242A>C , CM000685.1:g.154133242A>C GRCh37
NC_000023.9:g.153786436A>C NCBI36
NG_011403.1:g.122757T>G
NG_011403.2:g.122757T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5430T>G MANE Select ENSP00000353393.4:p.Ser1810=
ENST00000360256.8:c.5430T>G ENSP00000353393.4:p.Ser1810=
NM_000132.3:c.5430T>G NP_000123.1:p.Ser1810=
XM_011531126.1:c.5325T>G XP_011529428.1:p.Ser1775=
NM_000132.4:c.5430T>G MANE Select NP_000123.1:p.Ser1810=
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