Canonical Allele Identifier: CA414906151
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 627338
ClinVar RCV Id: RCV000852163
dbSNP Id: rs1603432970
MyVariant Identifiers: chrX:g.154132283T>G (hg19) chrX:g.154904008T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904008T>G , CM000685.2:g.154904008T>G GRCh38
NC_000023.10:g.154132283T>G , CM000685.1:g.154132283T>G GRCh37
NC_000023.9:g.153785477T>G NCBI36
NG_011403.1:g.123716A>C
NG_011403.2:g.123716A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.5896A>C MANE Select ENSP00000353393.4:p.Met1966Leu
ENST00000360256.8:c.5896A>C ENSP00000353393.4:p.Met1966Leu
NM_000132.3:c.5896A>C NP_000123.1:p.Met1966Leu
XM_011531126.1:c.5791A>C XP_011529428.1:p.Met1931Leu
NM_000132.4:c.5896A>C MANE Select NP_000123.1:p.Met1966Leu
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