Canonical Allele Identifier: CA10568650

Gene: F8

Linked Data

• dbSNP Id: rs782417067
• ExAC: X:154250784 C / T
• gnomAD v2: X-154250784-C-T
• gnomAD v4: X-155022509-C-T
• MyVariant Identifiers: chrX:g.154250784C>T (hg19) ; chrX:g.155022509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022509C>T , CM000685.2:g.155022509C>T	GRCh38
NC_000023.10:g.154250784C>T , CM000685.1:g.154250784C>T	GRCh37
NC_000023.9:g.153903978C>T	NCBI36
NG_011403.1:g.5215G>A
NG_011403.2:g.5215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.44G>A MANE Select	ENSP00000353393.4:p.Arg15Gln
ENST00000647125.1:c.44G>A	ENSP00000496062.1:p.Arg15Gln
ENST00000360256.8:c.44G>A	ENSP00000353393.4:p.Arg15Gln
ENST00000423959.5:c.38+4271G>A	ENSP00000409446.1:n.38+4271G>A
ENST00000453950.1:c.39-13G>A	ENSP00000389153.1:n.39-13G>A
NM_000132.3:c.44G>A	NP_000123.1:p.Arg15Gln
XM_011531126.1:c.38+4271G>A	XP_011529428.1:n.38+4271G>A
NM_000132.4:c.44G>A MANE Select	NP_000123.1:p.Arg15Gln