Canonical Allele Identifier: CA255214

Gene: F8

Linked Data

• ClinVar Variation Id: 10321
• ClinVar RCV Id: RCV000011034 ; RCV002247323
• dbSNP Id: rs137852467
• gnomAD v2: X-154091388-G-A
• gnomAD v3: X-154863113-G-A
• gnomAD v4: X-154863113-G-A
• COSMIC: COSM1118192 ; COSM1118193
• MyVariant Identifiers: chrX:g.154091388G>A (hg19) ; chrX:g.154863113G>A (hg38)
• PubMed: PMID:1412186

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863113G>A , CM000685.2:g.154863113G>A	GRCh38
NC_000023.10:g.154091388G>A , CM000685.1:g.154091388G>A	GRCh37
NC_000023.9:g.153744582G>A	NCBI36
NG_011403.1:g.164611C>T
NG_011403.2:g.164611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6544C>T MANE Select	ENSP00000353393.4:p.Arg2182Cys
ENST00000644698.1:c.277C>T	ENSP00000495706.1:p.Arg93Cys
ENST00000330287.10:c.139C>T	ENSP00000327895.6:p.Arg47Cys
ENST00000360256.8:c.6544C>T	ENSP00000353393.4:p.Arg2182Cys
NM_000132.3:c.6544C>T	NP_000123.1:p.Arg2182Cys
NM_019863.2:c.139C>T	NP_063916.1:p.Arg47Cys
XM_011531126.1:c.6439C>T	XP_011529428.1:p.Arg2147Cys
NM_000132.4:c.6544C>T MANE Select	NP_000123.1:p.Arg2182Cys
NM_019863.3:c.139C>T	NP_063916.1:p.Arg47Cys