Canonical Allele Identifier: CA414914417
Gene: F8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154194274G>C (hg19) chrX:g.154965999G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965999G>C , CM000685.2:g.154965999G>C GRCh38
NC_000023.10:g.154194274G>C , CM000685.1:g.154194274G>C GRCh37
NC_000023.9:g.153847468G>C NCBI36
NG_011403.1:g.61725C>G
NG_011403.2:g.61725C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1414C>G MANE Select ENSP00000353393.4:p.Leu472Val
ENST00000647125.1:c.*1290C>G ENSP00000496062.1:n.*1290C>G
ENST00000360256.8:c.1414C>G ENSP00000353393.4:p.Leu472Val
ENST00000483822.2:n.234C>G
NM_000132.3:c.1414C>G NP_000123.1:p.Leu472Val
XM_011531126.1:c.1309C>G XP_011529428.1:p.Leu437Val
NM_000132.4:c.1414C>G MANE Select NP_000123.1:p.Leu472Val
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