Canonical Allele Identifier: CA10568048
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331041
ClinVar RCV Id: RCV001802700 RCV003487788 RCV003264102
dbSNP Id: rs200396298
ExAC: X:154157056 G / A
gnomAD v2: X-154157056-G-A
gnomAD v3: X-154928781-G-A
gnomAD v4: X-154928781-G-A
MyVariant Identifiers: chrX:g.154157056G>A (hg19) chrX:g.154928781G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928781G>A , CM000685.2:g.154928781G>A GRCh38
NC_000023.10:g.154157056G>A , CM000685.1:g.154157056G>A GRCh37
NC_000023.9:g.153810250G>A NCBI36
NG_011403.1:g.98943C>T
NG_011403.2:g.98943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5009C>T MANE Select ENSP00000353393.4:p.Thr1670Ile
ENST00000360256.8:c.5009C>T ENSP00000353393.4:p.Thr1670Ile
NM_000132.3:c.5009C>T NP_000123.1:p.Thr1670Ile
XM_011531126.1:c.4904C>T XP_011529428.1:p.Thr1635Ile
NM_000132.4:c.5009C>T MANE Select NP_000123.1:p.Thr1670Ile
Search 100 bp 5'
Search 100 bp 3'