Canonical Allele Identifier: CA255224

Gene: F8

Linked Data

• ClinVar Variation Id: 10332
• ClinVar RCV Id: RCV000011045 ; RCV000851613 ; RCV001701721
• dbSNP Id: rs137852472
• gnomAD v4: X-154837697-G-A
• MyVariant Identifiers: chrX:g.154065972G>A (hg19) ; chrX:g.154837697G>A (hg38)
• PubMed: PMID:1924291

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837697G>A , CM000685.2:g.154837697G>A	GRCh38
NC_000023.10:g.154065972G>A , CM000685.1:g.154065972G>A	GRCh37
NC_000023.9:g.153719166G>A	NCBI36
NG_011403.1:g.190027C>T
NG_033065.1:g.1966C>T
NG_011403.2:g.190027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6956C>T MANE Select	ENSP00000353393.4:p.Pro2319Leu
ENST00000644698.1:c.689C>T	ENSP00000495706.1:p.Pro230Leu
ENST00000330287.10:c.551C>T	ENSP00000327895.6:p.Pro184Leu
ENST00000360256.8:c.6956C>T	ENSP00000353393.4:p.Pro2319Leu
NM_000132.3:c.6956C>T	NP_000123.1:p.Pro2319Leu
NM_019863.2:c.551C>T	NP_063916.1:p.Pro184Leu
XM_011531126.1:c.6851C>T	XP_011529428.1:p.Pro2284Leu
NM_000132.4:c.6956C>T MANE Select	NP_000123.1:p.Pro2319Leu
NM_019863.3:c.551C>T	NP_063916.1:p.Pro184Leu