Canonical Allele Identifier: CA414910737
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1191390826
gnomAD v3: X-154953955-G-A
gnomAD v4: X-154953955-G-A
MyVariant Identifiers: chrX:g.154182230G>A (hg19) chrX:g.154953955G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953955G>A , CM000685.2:g.154953955G>A GRCh38
NC_000023.10:g.154182230G>A , CM000685.1:g.154182230G>A GRCh37
NC_000023.9:g.153835424G>A NCBI36
NG_011403.1:g.73769C>T
NG_011403.2:g.73769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1840C>T MANE Select ENSP00000353393.4:p.Leu614Phe
ENST00000647125.1:c.*1716C>T ENSP00000496062.1:n.*1716C>T
ENST00000360256.8:c.1840C>T ENSP00000353393.4:p.Leu614Phe
NM_000132.3:c.1840C>T NP_000123.1:p.Leu614Phe
XM_011531126.1:c.1735C>T XP_011529428.1:p.Leu579Phe
NM_000132.4:c.1840C>T MANE Select NP_000123.1:p.Leu614Phe
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