Canonical Allele Identifier: CA10568384

Gene: F8

Linked Data

• dbSNP Id: rs781987282
• ExAC: X:154182135 C / A
• gnomAD v2: X-154182135-C-A
• gnomAD v4: X-154953860-C-A
• MyVariant Identifiers: chrX:g.154182135C>A (hg19) ; chrX:g.154953860C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154953860C>A , CM000685.2:g.154953860C>A	GRCh38
NC_000023.10:g.154182135C>A , CM000685.1:g.154182135C>A	GRCh37
NC_000023.9:g.153835329C>A	NCBI36
NG_011403.1:g.73864G>T
NG_011403.2:g.73864G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1903+32G>T MANE Select	ENSP00000353393.4:n.1903+32G>T
ENST00000647125.1:c.*1779+32G>T	ENSP00000496062.1:n.*1779+32G>T
ENST00000360256.8:c.1903+32G>T	ENSP00000353393.4:n.1903+32G>T
NM_000132.3:c.1903+32G>T	NP_000123.1:n.1903+32G>T
XM_011531126.1:c.1798+32G>T	XP_011529428.1:n.1798+32G>T
NM_000132.4:c.1903+32G>T MANE Select	NP_000123.1:n.1903+32G>T