Canonical Allele Identifier: CA414910730

Gene: F8

Linked Data

• dbSNP Id: rs2073350565
• MyVariant Identifiers: chrX:g.154182229A>C (hg19) ; chrX:g.154953954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154953954A>C , CM000685.2:g.154953954A>C	GRCh38
NC_000023.10:g.154182229A>C , CM000685.1:g.154182229A>C	GRCh37
NC_000023.9:g.153835423A>C	NCBI36
NG_011403.1:g.73770T>G
NG_011403.2:g.73770T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.1841T>G MANE Select	ENSP00000353393.4:p.Leu614Arg
ENST00000647125.1:c.*1717T>G	ENSP00000496062.1:n.*1717T>G
ENST00000360256.8:c.1841T>G	ENSP00000353393.4:p.Leu614Arg
NM_000132.3:c.1841T>G	NP_000123.1:p.Leu614Arg
XM_011531126.1:c.1736T>G	XP_011529428.1:p.Leu579Arg
NM_000132.4:c.1841T>G MANE Select	NP_000123.1:p.Leu614Arg