Canonical Allele Identifier: CA10568510

Gene: F8

Linked Data

• ClinVar Variation Id: 1685801
• ClinVar RCV Id: RCV002249968 ; RCV003235689 ; RCV003546738
• dbSNP Id: rs782395704
• ExAC: X:154194942 T / G
• gnomAD v2: X-154194942-T-G
• gnomAD v3: X-154966667-T-G
• gnomAD v4: X-154966667-T-G
• MyVariant Identifiers: chrX:g.154194942T>G (hg19) ; chrX:g.154966667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154966667T>G , CM000685.2:g.154966667T>G	GRCh38
NC_000023.10:g.154194942T>G , CM000685.1:g.154194942T>G	GRCh37
NC_000023.9:g.153848136T>G	NCBI36
NG_011403.1:g.61057A>C
NG_011403.2:g.61057A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.1030A>C MANE Select	ENSP00000353393.4:p.Lys344Gln
ENST00000647125.1:c.*906A>C	ENSP00000496062.1:n.*906A>C
ENST00000360256.8:c.1030A>C	ENSP00000353393.4:p.Lys344Gln
NM_000132.3:c.1030A>C	NP_000123.1:p.Lys344Gln
XM_011531126.1:c.925A>C	XP_011529428.1:p.Lys309Gln
NM_000132.4:c.1030A>C MANE Select	NP_000123.1:p.Lys344Gln