Canonical Allele Identifier: CA414919866

Gene: F8

Linked Data

• dbSNP Id: rs1302639429
• MyVariant Identifiers: chrX:g.154225249C>G (hg19) ; chrX:g.154996974C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154996974C>G , CM000685.2:g.154996974C>G	GRCh38
NC_000023.10:g.154225249C>G , CM000685.1:g.154225249C>G	GRCh37
NC_000023.9:g.153878443C>G	NCBI36
NG_011403.1:g.30750G>C
NG_011403.2:g.30750G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.387G>C MANE Select	ENSP00000353393.4:p.Glu129Asp
ENST00000647125.1:c.*173G>C	ENSP00000496062.1:n.*173G>C
ENST00000360256.8:c.387G>C	ENSP00000353393.4:p.Glu129Asp
ENST00000423959.5:c.282G>C	ENSP00000409446.1:p.Glu94Asp
ENST00000453950.1:c.369G>C	ENSP00000389153.1:p.Glu123Asp
NM_000132.3:c.387G>C	NP_000123.1:p.Glu129Asp
XM_011531126.1:c.282G>C	XP_011529428.1:p.Glu94Asp
NM_000132.4:c.387G>C MANE Select	NP_000123.1:p.Glu129Asp