Canonical Allele Identifier: CA414920430
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 627238
ClinVar RCV Id: RCV000852028
dbSNP Id: rs1261929809
MyVariant Identifiers: chrX:g.154250685C>T (hg19) chrX:g.155022410C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022410C>T , CM000685.2:g.155022410C>T GRCh38
NC_000023.10:g.154250685C>T , CM000685.1:g.154250685C>T GRCh37
NC_000023.9:g.153903879C>T NCBI36
NG_011403.1:g.5314G>A
NG_011403.2:g.5314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.143G>A MANE Select ENSP00000353393.4:p.Arg48Lys
ENST00000647125.1:c.121+22G>A ENSP00000496062.1:n.121+22G>A
ENST00000360256.8:c.143G>A ENSP00000353393.4:p.Arg48Lys
ENST00000423959.5:c.38+4370G>A ENSP00000409446.1:n.38+4370G>A
ENST00000453950.1:c.125G>A ENSP00000389153.1:p.Arg42Lys
NM_000132.3:c.143G>A NP_000123.1:p.Arg48Lys
XM_011531126.1:c.38+4370G>A XP_011529428.1:n.38+4370G>A
NM_000132.4:c.143G>A MANE Select NP_000123.1:p.Arg48Lys
Search 100 bp 5'
Search 100 bp 3'