Canonical Allele Identifier: CA414919615

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154221328C>G (hg19) ; chrX:g.154993053C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993053C>G , CM000685.2:g.154993053C>G	GRCh38
NC_000023.10:g.154221328C>G , CM000685.1:g.154221328C>G	GRCh37
NC_000023.9:g.153874522C>G	NCBI36
NG_011403.1:g.34671G>C
NG_011403.2:g.34671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.484G>C MANE Select	ENSP00000353393.4:p.Glu162Gln
ENST00000647125.1:c.*270G>C	ENSP00000496062.1:n.*270G>C
ENST00000360256.8:c.484G>C	ENSP00000353393.4:p.Glu162Gln
ENST00000423959.5:c.379G>C	ENSP00000409446.1:p.Glu127Gln
ENST00000453950.1:c.466G>C	ENSP00000389153.1:p.Glu156Gln
NM_000132.3:c.484G>C	NP_000123.1:p.Glu162Gln
XM_011531126.1:c.379G>C	XP_011529428.1:p.Glu127Gln
NM_000132.4:c.484G>C MANE Select	NP_000123.1:p.Glu162Gln