Canonical Allele Identifier: CA255058

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997011A>C , CM000685.2:g.154997011A>C	GRCh38
NC_000023.10:g.154225286A>C , CM000685.1:g.154225286A>C	GRCh37
NC_000023.9:g.153878480A>C	NCBI36
NG_011403.1:g.30713T>G
NG_011403.2:g.30713T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000132.4:c.350T>G MANE Select	NP_000123.1:p.Leu117Arg
ENST00000360256.9:c.350T>G MANE Select	ENSP00000353393.4:p.Leu117Arg
NM_000132.3:c.350T>G	NP_000123.1:p.Leu117Arg
ENST00000360256.8:c.350T>G	ENSP00000353393.4:p.Leu117Arg
ENST00000423959.5:c.245T>G	ENSP00000409446.1:p.Leu82Arg
ENST00000453950.1:c.332T>G	ENSP00000389153.1:p.Leu111Arg
ENST00000647125.1:c.*136T>G	ENSP00000496062.1:n.*136T>G
XM_011531126.1:c.245T>G	XP_011529428.1:p.Leu82Arg