Canonical Allele Identifier: CA414914401

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154194270T>A (hg19) ; chrX:g.154965995T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154965995T>A , CM000685.2:g.154965995T>A	GRCh38
NC_000023.10:g.154194270T>A , CM000685.1:g.154194270T>A	GRCh37
NC_000023.9:g.153847464T>A	NCBI36
NG_011403.1:g.61729A>T
NG_011403.2:g.61729A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1418A>T MANE Select	ENSP00000353393.4:p.Tyr473Phe
ENST00000647125.1:c.*1294A>T	ENSP00000496062.1:n.*1294A>T
ENST00000360256.8:c.1418A>T	ENSP00000353393.4:p.Tyr473Phe
ENST00000483822.2:n.238A>T
NM_000132.3:c.1418A>T	NP_000123.1:p.Tyr473Phe
XM_011531126.1:c.1313A>T	XP_011529428.1:p.Tyr438Phe
NM_000132.4:c.1418A>T MANE Select	NP_000123.1:p.Tyr473Phe