Canonical Allele Identifier: CA414917341
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 627191
ClinVar RCV Id: RCV000851962
dbSNP Id: rs1603435286
gnomAD v4: X-154966677-T-G
MyVariant Identifiers: chrX:g.154194952T>G (hg19) chrX:g.154966677T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966677T>G , CM000685.2:g.154966677T>G GRCh38
NC_000023.10:g.154194952T>G , CM000685.1:g.154194952T>G GRCh37
NC_000023.9:g.153848146T>G NCBI36
NG_011403.1:g.61047A>C
NG_011403.2:g.61047A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1020A>C MANE Select ENSP00000353393.4:p.Glu340Asp
ENST00000647125.1:c.*896A>C ENSP00000496062.1:n.*896A>C
ENST00000360256.8:c.1020A>C ENSP00000353393.4:p.Glu340Asp
NM_000132.3:c.1020A>C NP_000123.1:p.Glu340Asp
XM_011531126.1:c.915A>C XP_011529428.1:p.Glu305Asp
NM_000132.4:c.1020A>C MANE Select NP_000123.1:p.Glu340Asp
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