Canonical Allele Identifier: CA255060

Gene: F8

Linked Data

• ClinVar Variation Id: 10171
• ClinVar RCV Id: RCV000010884 ; RCV001529373 ; RCV002496321 ; RCV002247319 ; RCV002280860 ; RCV003952352
• dbSNP Id: rs137852388
• ExAC: X:154221416 T / G
• gnomAD v2: X-154221416-T-G
• gnomAD v3: X-154993141-T-G
• gnomAD v4: X-154993141-T-G
• MyVariant Identifiers: chrX:g.154221416T>G (hg19) ; chrX:g.154993141T>G (hg38)
• PubMed: PMID:6438527 ; PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993141T>G , CM000685.2:g.154993141T>G	GRCh38
NC_000023.10:g.154221416T>G , CM000685.1:g.154221416T>G	GRCh37
NC_000023.9:g.153874610T>G	NCBI36
NG_011403.1:g.34583A>C
NG_011403.2:g.34583A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.396A>C MANE Select	ENSP00000353393.4:p.Glu132Asp
ENST00000647125.1:c.*182A>C	ENSP00000496062.1:n.*182A>C
ENST00000360256.8:c.396A>C	ENSP00000353393.4:p.Glu132Asp
ENST00000423959.5:c.291A>C	ENSP00000409446.1:p.Glu97Asp
ENST00000453950.1:c.378A>C	ENSP00000389153.1:p.Glu126Asp
NM_000132.3:c.396A>C	NP_000123.1:p.Glu132Asp
XM_011531126.1:c.291A>C	XP_011529428.1:p.Glu97Asp
NM_000132.4:c.396A>C MANE Select	NP_000123.1:p.Glu132Asp