Canonical Allele Identifier: CA10568603

Gene: F8

Linked Data

• dbSNP Id: rs782526182
• ExAC: X:154225356 T / C
• gnomAD v2: X-154225356-T-C
• gnomAD v4: X-154997081-T-C
• MyVariant Identifiers: chrX:g.154225356T>C (hg19) ; chrX:g.154997081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997081T>C , CM000685.2:g.154997081T>C	GRCh38
NC_000023.10:g.154225356T>C , CM000685.1:g.154225356T>C	GRCh37
NC_000023.9:g.153878550T>C	NCBI36
NG_011403.1:g.30643A>G
NG_011403.2:g.30643A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.280A>G MANE Select	ENSP00000353393.4:p.Thr94Ala
ENST00000647125.1:c.*66A>G	ENSP00000496062.1:n.*66A>G
ENST00000360256.8:c.280A>G	ENSP00000353393.4:p.Thr94Ala
ENST00000423959.5:c.175A>G	ENSP00000409446.1:p.Thr59Ala
ENST00000453950.1:c.262A>G	ENSP00000389153.1:p.Thr88Ala
NM_000132.3:c.280A>G	NP_000123.1:p.Thr94Ala
XM_011531126.1:c.175A>G	XP_011529428.1:p.Thr59Ala
NM_000132.4:c.280A>G MANE Select	NP_000123.1:p.Thr94Ala