Canonical Allele Identifier: CA414919870

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154225250T>G (hg19) ; chrX:g.154996975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154996975T>G , CM000685.2:g.154996975T>G	GRCh38
NC_000023.10:g.154225250T>G , CM000685.1:g.154225250T>G	GRCh37
NC_000023.9:g.153878444T>G	NCBI36
NG_011403.1:g.30749A>C
NG_011403.2:g.30749A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.386A>C MANE Select	ENSP00000353393.4:p.Glu129Ala
ENST00000647125.1:c.*172A>C	ENSP00000496062.1:n.*172A>C
ENST00000360256.8:c.386A>C	ENSP00000353393.4:p.Glu129Ala
ENST00000423959.5:c.281A>C	ENSP00000409446.1:p.Glu94Ala
ENST00000453950.1:c.368A>C	ENSP00000389153.1:p.Glu123Ala
NM_000132.3:c.386A>C	NP_000123.1:p.Glu129Ala
XM_011531126.1:c.281A>C	XP_011529428.1:p.Glu94Ala
NM_000132.4:c.386A>C MANE Select	NP_000123.1:p.Glu129Ala