Canonical Allele Identifier: CA414912308
Gene: F8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154185432T>C (hg19) chrX:g.154957157T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957157T>C , CM000685.2:g.154957157T>C GRCh38
NC_000023.10:g.154185432T>C , CM000685.1:g.154185432T>C GRCh37
NC_000023.9:g.153838626T>C NCBI36
NG_011403.1:g.70567A>G
NG_011403.2:g.70567A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1552A>G MANE Select ENSP00000353393.4:p.Lys518Glu
ENST00000647125.1:c.*1428A>G ENSP00000496062.1:n.*1428A>G
ENST00000360256.8:c.1552A>G ENSP00000353393.4:p.Lys518Glu
NM_000132.3:c.1552A>G NP_000123.1:p.Lys518Glu
XM_011531126.1:c.1447A>G XP_011529428.1:p.Lys483Glu
NM_000132.4:c.1552A>G MANE Select NP_000123.1:p.Lys518Glu
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