Canonical Allele Identifier: CA10568575
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 449370
ClinVar RCV Id: RCV000519065 RCV000851605 RCV003403227
dbSNP Id: rs782158761
ExAC: X:154221213 T / C
gnomAD v2: X-154221213-T-C
gnomAD v4: X-154992938-T-C
MyVariant Identifiers: chrX:g.154221213T>C (hg19) chrX:g.154992938T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992938T>C , CM000685.2:g.154992938T>C GRCh38
NC_000023.10:g.154221213T>C , CM000685.1:g.154221213T>C GRCh37
NC_000023.9:g.153874407T>C NCBI36
NG_011403.1:g.34786A>G
NG_011403.2:g.34786A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.599A>G MANE Select ENSP00000353393.4:p.Glu200Gly
ENST00000647125.1:c.*385A>G ENSP00000496062.1:n.*385A>G
ENST00000360256.8:c.599A>G ENSP00000353393.4:p.Glu200Gly
ENST00000423959.5:c.494A>G ENSP00000409446.1:p.Glu165Gly
NM_000132.3:c.599A>G NP_000123.1:p.Glu200Gly
XM_011531126.1:c.494A>G XP_011529428.1:p.Glu165Gly
NM_000132.4:c.599A>G MANE Select NP_000123.1:p.Glu200Gly
Search 100 bp 5'
Search 100 bp 3'