Canonical Allele Identifier: CA414914273
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 811122
ClinVar RCV Id: RCV001000774
dbSNP Id: rs1256548419
MyVariant Identifiers: chrX:g.154194249A>G (hg19) chrX:g.154965974A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965974A>G , CM000685.2:g.154965974A>G GRCh38
NC_000023.10:g.154194249A>G , CM000685.1:g.154194249A>G GRCh37
NC_000023.9:g.153847443A>G NCBI36
NG_011403.1:g.61750T>C
NG_011403.2:g.61750T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1439T>C MANE Select ENSP00000353393.4:p.Leu480Pro
ENST00000647125.1:c.*1315T>C ENSP00000496062.1:n.*1315T>C
ENST00000360256.8:c.1439T>C ENSP00000353393.4:p.Leu480Pro
ENST00000483822.2:n.259T>C
NM_000132.3:c.1439T>C NP_000123.1:p.Leu480Pro
XM_011531126.1:c.1334T>C XP_011529428.1:p.Leu445Pro
NM_000132.4:c.1439T>C MANE Select NP_000123.1:p.Leu480Pro
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