Canonical Allele Identifier: CA414912394
Gene: F8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154185444C>G (hg19) chrX:g.154957169C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957169C>G , CM000685.2:g.154957169C>G GRCh38
NC_000023.10:g.154185444C>G , CM000685.1:g.154185444C>G GRCh37
NC_000023.9:g.153838638C>G NCBI36
NG_011403.1:g.70555G>C
NG_011403.2:g.70555G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1540G>C MANE Select ENSP00000353393.4:p.Val514Leu
ENST00000647125.1:c.*1416G>C ENSP00000496062.1:n.*1416G>C
ENST00000360256.8:c.1540G>C ENSP00000353393.4:p.Val514Leu
NM_000132.3:c.1540G>C NP_000123.1:p.Val514Leu
XM_011531126.1:c.1435G>C XP_011529428.1:p.Val479Leu
NM_000132.4:c.1540G>C MANE Select NP_000123.1:p.Val514Leu
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