Canonical Allele Identifier: CA255129

Gene: F8

Linked Data

• ClinVar Variation Id: 10236
• ClinVar RCV Id: RCV000010949 ; RCV000413577 ; RCV000851933 ; RCV002247320 ; RCV004540992
• dbSNP Id: rs137852428
• ExAC: X:154182236 G / A
• gnomAD v2: X-154182236-G-A
• gnomAD v3: X-154953961-G-A
• gnomAD v4: X-154953961-G-A
• COSMIC: COSM1118272 ; COSM1118273
• MyVariant Identifiers: chrX:g.154182236G>A (hg19) ; chrX:g.154953961G>A (hg38)
• ERepo: CA255129/MONDO:0010602/071
• PubMed: PMID:1301932 ; PMID:1908096 ; PMID:7728145 ; PMID:8281136

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154953961G>A , CM000685.2:g.154953961G>A	GRCh38
NC_000023.10:g.154182236G>A , CM000685.1:g.154182236G>A	GRCh37
NC_000023.9:g.153835430G>A	NCBI36
NG_011403.1:g.73763C>T
NG_011403.2:g.73763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1834C>T MANE Select	ENSP00000353393.4:p.Arg612Cys
ENST00000647125.1:c.*1710C>T	ENSP00000496062.1:n.*1710C>T
ENST00000360256.8:c.1834C>T	ENSP00000353393.4:p.Arg612Cys
NM_000132.3:c.1834C>T	NP_000123.1:p.Arg612Cys
XM_011531126.1:c.1729C>T	XP_011529428.1:p.Arg577Cys
NM_000132.4:c.1834C>T MANE Select	NP_000123.1:p.Arg612Cys