Canonical Allele Identifier: CA255216

Gene: F8

Linked Data

• ClinVar Variation Id: 10325
• ClinVar RCV Id: RCV000011038
• dbSNP Id: rs137852355
• MyVariant Identifiers: chrX:g.154090034G>C (hg19) ; chrX:g.154861759G>C (hg38)
• PubMed: PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154861759G>C , CM000685.2:g.154861759G>C	GRCh38
NC_000023.10:g.154090034G>C , CM000685.1:g.154090034G>C	GRCh37
NC_000023.9:g.153743228G>C	NCBI36
NG_011403.1:g.165965C>G
NG_011403.2:g.165965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6682C>G MANE Select	ENSP00000353393.4:p.Arg2228Gly
ENST00000644698.1:c.415C>G	ENSP00000495706.1:p.Arg139Gly
ENST00000330287.10:c.277C>G	ENSP00000327895.6:p.Arg93Gly
ENST00000360256.8:c.6682C>G	ENSP00000353393.4:p.Arg2228Gly
NM_000132.3:c.6682C>G	NP_000123.1:p.Arg2228Gly
NM_019863.2:c.277C>G	NP_063916.1:p.Arg93Gly
XM_011531126.1:c.6577C>G	XP_011529428.1:p.Arg2193Gly
NM_000132.4:c.6682C>G MANE Select	NP_000123.1:p.Arg2228Gly
NM_019863.3:c.277C>G	NP_063916.1:p.Arg93Gly