Canonical Allele Identifier: CA414920522

Gene: F8

Linked Data

• ClinVar Variation Id: 2428606
• ClinVar RCV Id: RCV003120207
• dbSNP Id: rs2073764726
• MyVariant Identifiers: chrX:g.154250727T>A (hg19) ; chrX:g.155022452T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022452T>A , CM000685.2:g.155022452T>A	GRCh38
NC_000023.10:g.154250727T>A , CM000685.1:g.154250727T>A	GRCh37
NC_000023.9:g.153903921T>A	NCBI36
NG_011403.1:g.5272A>T
NG_011403.2:g.5272A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.101A>T MANE Select	ENSP00000353393.4:p.Asp34Val
ENST00000647125.1:c.101A>T	ENSP00000496062.1:p.Asp34Val
ENST00000360256.8:c.101A>T	ENSP00000353393.4:p.Asp34Val
ENST00000423959.5:c.38+4328A>T	ENSP00000409446.1:n.38+4328A>T
ENST00000453950.1:c.83A>T	ENSP00000389153.1:p.Asp28Val
NM_000132.3:c.101A>T	NP_000123.1:p.Asp34Val
XM_011531126.1:c.38+4328A>T	XP_011529428.1:n.38+4328A>T
NM_000132.4:c.101A>T MANE Select	NP_000123.1:p.Asp34Val