Canonical Allele Identifier: CA414919364
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 811081
ClinVar RCV Id: RCV001000703
dbSNP Id: rs1229954426
MyVariant Identifiers: chrX:g.154221211C>T (hg19) chrX:g.154992936C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992936C>T , CM000685.2:g.154992936C>T GRCh38
NC_000023.10:g.154221211C>T , CM000685.1:g.154221211C>T GRCh37
NC_000023.9:g.153874405C>T NCBI36
NG_011403.1:g.34788G>A
NG_011403.2:g.34788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.601G>A MANE Select ENSP00000353393.4:p.Gly201Arg
ENST00000647125.1:c.*387G>A ENSP00000496062.1:n.*387G>A
ENST00000360256.8:c.601G>A ENSP00000353393.4:p.Gly201Arg
ENST00000423959.5:c.496G>A ENSP00000409446.1:p.Gly166Arg
NM_000132.3:c.601G>A NP_000123.1:p.Gly201Arg
XM_011531126.1:c.496G>A XP_011529428.1:p.Gly166Arg
NM_000132.4:c.601G>A MANE Select NP_000123.1:p.Gly201Arg
Search 100 bp 5'
Search 100 bp 3'