Canonical Allele Identifier: CA414919817

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154221412C>T (hg19) ; chrX:g.154993137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993137C>T , CM000685.2:g.154993137C>T	GRCh38
NC_000023.10:g.154221412C>T , CM000685.1:g.154221412C>T	GRCh37
NC_000023.9:g.153874606C>T	NCBI36
NG_011403.1:g.34587G>A
NG_011403.2:g.34587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.400G>A MANE Select	ENSP00000353393.4:p.Asp134Asn
ENST00000647125.1:c.*186G>A	ENSP00000496062.1:n.*186G>A
ENST00000360256.8:c.400G>A	ENSP00000353393.4:p.Asp134Asn
ENST00000423959.5:c.295G>A	ENSP00000409446.1:p.Asp99Asn
ENST00000453950.1:c.382G>A	ENSP00000389153.1:p.Asp128Asn
NM_000132.3:c.400G>A	NP_000123.1:p.Asp134Asn
XM_011531126.1:c.295G>A	XP_011529428.1:p.Asp99Asn
NM_000132.4:c.400G>A MANE Select	NP_000123.1:p.Asp134Asn