Canonical Allele Identifier: CA414920091

Gene: F8

Linked Data

• ClinVar Variation Id: 1330732
• ClinVar RCV Id: RCV001802391
• dbSNP Id: rs2124146053
• MyVariant Identifiers: chrX:g.154225350G>A (hg19) ; chrX:g.154997075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997075G>A , CM000685.2:g.154997075G>A	GRCh38
NC_000023.10:g.154225350G>A , CM000685.1:g.154225350G>A	GRCh37
NC_000023.9:g.153878544G>A	NCBI36
NG_011403.1:g.30649C>T
NG_011403.2:g.30649C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.286C>T MANE Select	ENSP00000353393.4:p.Gln96Ter
ENST00000647125.1:c.*72C>T	ENSP00000496062.1:n.*72C>T
ENST00000360256.8:c.286C>T	ENSP00000353393.4:p.Gln96Ter
ENST00000423959.5:c.181C>T	ENSP00000409446.1:p.Gln61Ter
ENST00000453950.1:c.268C>T	ENSP00000389153.1:p.Gln90Ter
NM_000132.3:c.286C>T	NP_000123.1:p.Gln96Ter
XM_011531126.1:c.181C>T	XP_011529428.1:p.Gln61Ter
NM_000132.4:c.286C>T MANE Select	NP_000123.1:p.Gln96Ter