Canonical Allele Identifier: CA255203

Gene: F8

Linked Data

• ClinVar Variation Id: 10310
• ClinVar RCV Id: RCV000011023 ; RCV001508071
• dbSNP Id: rs137852459
• ExAC: X:154124410 T / C
• gnomAD v2: X-154124410-T-C
• gnomAD v4: X-154896135-T-C
• MyVariant Identifiers: chrX:g.154124410T>C (hg19) ; chrX:g.154896135T>C (hg38)
• PubMed: PMID:6438527 ; PMID:8281136

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154896135T>C , CM000685.2:g.154896135T>C	GRCh38
NC_000023.10:g.154124410T>C , CM000685.1:g.154124410T>C	GRCh37
NC_000023.9:g.153777604T>C	NCBI36
NG_011403.1:g.131589A>G
NG_011403.2:g.131589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6371A>G MANE Select	ENSP00000353393.4:p.Tyr2124Cys
ENST00000360256.8:c.6371A>G	ENSP00000353393.4:p.Tyr2124Cys
NM_000132.3:c.6371A>G	NP_000123.1:p.Tyr2124Cys
XM_011531126.1:c.6266A>G	XP_011529428.1:p.Tyr2089Cys
NM_000132.4:c.6371A>G MANE Select	NP_000123.1:p.Tyr2124Cys