Canonical Allele Identifier: CA519357753
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1455223483
gnomAD v3: X-154953956-A-G
gnomAD v4: X-154953956-A-G
MyVariant Identifiers: chrX:g.154182231A>G (hg19) chrX:g.154953956A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953956A>G , CM000685.2:g.154953956A>G GRCh38
NC_000023.10:g.154182231A>G , CM000685.1:g.154182231A>G GRCh37
NC_000023.9:g.153835425A>G NCBI36
NG_011403.1:g.73768T>C
NG_011403.2:g.73768T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1839T>C MANE Select ENSP00000353393.4:p.Phe613=
ENST00000647125.1:c.*1715T>C ENSP00000496062.1:n.*1715T>C
ENST00000360256.8:c.1839T>C ENSP00000353393.4:p.Phe613=
NM_000132.3:c.1839T>C NP_000123.1:p.Phe613=
XM_011531126.1:c.1734T>C XP_011529428.1:p.Phe578=
NM_000132.4:c.1839T>C MANE Select NP_000123.1:p.Phe613=
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