Canonical Allele Identifier: CA255068

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154987242T>A , CM000685.2:g.154987242T>A	GRCh38
NC_000023.10:g.154215517T>A , CM000685.1:g.154215517T>A	GRCh37
NC_000023.9:g.153868711T>A	NCBI36
NG_011403.1:g.40482A>T
NG_011403.2:g.40482A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000132.4:c.665A>T MANE Select	NP_000123.1:p.Asp222Val
ENST00000360256.9:c.665A>T MANE Select	ENSP00000353393.4:p.Asp222Val
NM_000132.3:c.665A>T	NP_000123.1:p.Asp222Val
ENST00000360256.8:c.665A>T	ENSP00000353393.4:p.Asp222Val
ENST00000423959.5:c.560A>T	ENSP00000409446.1:p.Asp187Val
ENST00000647125.1:c.*451A>T	ENSP00000496062.1:n.*451A>T
XM_011531126.1:c.560A>T	XP_011529428.1:p.Asp187Val