Canonical Allele Identifier: CA10567730

Gene: F8

Linked Data

• ClinVar Variation Id: 914337
• ClinVar RCV Id: RCV001168451
• dbSNP Id: rs373079141
• ExAC: X:154065999 G / A
• gnomAD v2: X-154065999-G-A
• gnomAD v3: X-154837724-G-A
• gnomAD v4: X-154837724-G-A
• MyVariant Identifiers: chrX:g.154065999G>A (hg19) ; chrX:g.154837724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837724G>A , CM000685.2:g.154837724G>A	GRCh38
NC_000023.10:g.154065999G>A , CM000685.1:g.154065999G>A	GRCh37
NC_000023.9:g.153719193G>A	NCBI36
NG_011403.1:g.190000C>T
NG_033065.1:g.1939C>T
NG_011403.2:g.190000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6929C>T MANE Select	ENSP00000353393.4:p.Thr2310Ile
ENST00000644698.1:c.662C>T	ENSP00000495706.1:p.Thr221Ile
ENST00000330287.10:c.524C>T	ENSP00000327895.6:p.Thr175Ile
ENST00000360256.8:c.6929C>T	ENSP00000353393.4:p.Thr2310Ile
NM_000132.3:c.6929C>T	NP_000123.1:p.Thr2310Ile
NM_019863.2:c.524C>T	NP_063916.1:p.Thr175Ile
XM_011531126.1:c.6824C>T	XP_011529428.1:p.Thr2275Ile
NM_000132.4:c.6929C>T MANE Select	NP_000123.1:p.Thr2310Ile
NM_019863.3:c.524C>T	NP_063916.1:p.Thr175Ile