Canonical Allele Identifier: CA519384091

Gene: F8

Linked Data

• gnomAD v4: X-154996974-C-T
• MyVariant Identifiers: chrX:g.154225249C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154996974C>T , CM000685.2:g.154996974C>T	GRCh38
NC_000023.10:g.154225249C>T , CM000685.1:g.154225249C>T	GRCh37
NC_000023.9:g.153878443C>T	NCBI36
NG_011403.1:g.30750G>A
NG_011403.2:g.30750G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.387G>A MANE Select	ENSP00000353393.4:p.Glu129=
ENST00000647125.1:c.*173G>A	ENSP00000496062.1:n.*173G>A
ENST00000360256.8:c.387G>A	ENSP00000353393.4:p.Glu129=
ENST00000423959.5:c.282G>A	ENSP00000409446.1:p.Glu94=
ENST00000453950.1:c.369G>A	ENSP00000389153.1:p.Glu123=
NM_000132.3:c.387G>A	NP_000123.1:p.Glu129=
XM_011531126.1:c.282G>A	XP_011529428.1:p.Glu94=
NM_000132.4:c.387G>A MANE Select	NP_000123.1:p.Glu129=