Canonical Allele Identifier: CA10568593

Gene: F8

Linked Data

• dbSNP Id: rs781966869
• ExAC: X:154221464 T / C
• gnomAD v2: X-154221464-T-C
• gnomAD v4: X-154993189-T-C
• MyVariant Identifiers: chrX:g.154221464T>C (hg19) ; chrX:g.154993189T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993189T>C , CM000685.2:g.154993189T>C	GRCh38
NC_000023.10:g.154221464T>C , CM000685.1:g.154221464T>C	GRCh37
NC_000023.9:g.153874658T>C	NCBI36
NG_011403.1:g.34535A>G
NG_011403.2:g.34535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.389-41A>G MANE Select	ENSP00000353393.4:n.389-41A>G
ENST00000647125.1:c.*175-41A>G	ENSP00000496062.1:n.*175-41A>G
ENST00000360256.8:c.389-41A>G	ENSP00000353393.4:n.389-41A>G
ENST00000423959.5:c.284-41A>G	ENSP00000409446.1:n.284-41A>G
ENST00000453950.1:c.371-41A>G	ENSP00000389153.1:n.371-41A>G
NM_000132.3:c.389-41A>G	NP_000123.1:n.389-41A>G
XM_011531126.1:c.284-41A>G	XP_011529428.1:n.284-41A>G
NM_000132.4:c.389-41A>G MANE Select	NP_000123.1:n.389-41A>G