Canonical Allele Identifier: CA255056

Gene: F8

Linked Data

• ClinVar Variation Id: 10167
• ClinVar RCV Id: RCV000010880 ; RCV000508582 ; RCV002247318
• dbSNP Id: rs137852384
• gnomAD v3: X-154997038-T-G
• gnomAD v4: X-154997038-T-G
• COSMIC: COSM1173576 ; COSM1173577
• MyVariant Identifiers: chrX:g.154225313T>G (hg19) ; chrX:g.154997038T>G (hg38)
• PubMed: PMID:1908096

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997038T>G , CM000685.2:g.154997038T>G	GRCh38
NC_000023.10:g.154225313T>G , CM000685.1:g.154225313T>G	GRCh37
NC_000023.9:g.153878507T>G	NCBI36
NG_011403.1:g.30686A>C
NG_011403.2:g.30686A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.323A>C MANE Select	ENSP00000353393.4:p.Lys108Thr
ENST00000647125.1:c.*109A>C	ENSP00000496062.1:n.*109A>C
ENST00000360256.8:c.323A>C	ENSP00000353393.4:p.Lys108Thr
ENST00000423959.5:c.218A>C	ENSP00000409446.1:p.Lys73Thr
ENST00000453950.1:c.305A>C	ENSP00000389153.1:p.Lys102Thr
NM_000132.3:c.323A>C	NP_000123.1:p.Lys108Thr
XM_011531126.1:c.218A>C	XP_011529428.1:p.Lys73Thr
NM_000132.4:c.323A>C MANE Select	NP_000123.1:p.Lys108Thr