Canonical Allele Identifier: CA519384159

Gene: F8

Linked Data

• dbSNP Id: rs1557285158
• gnomAD v2: X-154225348-C-T
• gnomAD v4: X-154997073-C-T
• MyVariant Identifiers: chrX:g.154225348C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997073C>T , CM000685.2:g.154997073C>T	GRCh38
NC_000023.10:g.154225348C>T , CM000685.1:g.154225348C>T	GRCh37
NC_000023.9:g.153878542C>T	NCBI36
NG_011403.1:g.30651G>A
NG_011403.2:g.30651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.288G>A MANE Select	ENSP00000353393.4:p.Gln96=
ENST00000647125.1:c.*74G>A	ENSP00000496062.1:n.*74G>A
ENST00000360256.8:c.288G>A	ENSP00000353393.4:p.Gln96=
ENST00000423959.5:c.183G>A	ENSP00000409446.1:p.Gln61=
ENST00000453950.1:c.270G>A	ENSP00000389153.1:p.Gln90=
NM_000132.3:c.288G>A	NP_000123.1:p.Gln96=
XM_011531126.1:c.183G>A	XP_011529428.1:p.Gln61=
NM_000132.4:c.288G>A MANE Select	NP_000123.1:p.Gln96=