Canonical Allele Identifier: CA337332977
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 627254
ClinVar RCV Id: RCV000852045
dbSNP Id: rs139526001
gnomAD v4: X-154957088-T-A
MyVariant Identifiers: chrX:g.154185363T>A (hg19) chrX:g.154957088T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957088T>A , CM000685.2:g.154957088T>A GRCh38
NC_000023.10:g.154185363T>A , CM000685.1:g.154185363T>A GRCh37
NC_000023.9:g.153838557T>A NCBI36
NG_011403.1:g.70636A>T
NG_011403.2:g.70636A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1621A>T MANE Select ENSP00000353393.4:p.Thr541Ser
ENST00000647125.1:c.*1497A>T ENSP00000496062.1:n.*1497A>T
ENST00000360256.8:c.1621A>T ENSP00000353393.4:p.Thr541Ser
NM_000132.3:c.1621A>T NP_000123.1:p.Thr541Ser
XM_011531126.1:c.1516A>T XP_011529428.1:p.Thr506Ser
NM_000132.4:c.1621A>T MANE Select NP_000123.1:p.Thr541Ser
Search 100 bp 5'
Search 100 bp 3'