Canonical Allele Identifier: CA414438845

Gene: F9

Linked Data

• ClinVar Variation Id: 2138737
• ClinVar RCV Id: RCV003066386
• MyVariant Identifiers: chrX:g.138630542A>C (hg19) ; chrX:g.139548383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139548383A>C , CM000685.2:g.139548383A>C	GRCh38
NC_000023.10:g.138630542A>C , CM000685.1:g.138630542A>C	GRCh37
NC_000023.9:g.138458208A>C	NCBI36
NG_007994.1:g.22648A>C , LRG_556:g.22648A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.412A>C MANE Select	ENSP00000218099.2:p.Asn138His
ENST00000643157.1:n.1079A>C
ENST00000218099.6:c.412A>C	ENSP00000218099.2:p.Asn138His
ENST00000394090.2:c.298A>C	ENSP00000377650.2:p.Asn100His
ENST00000479617.2:n.365A>C
NM_000133.3:c.412A>C , LRG_556t1:c.412A>C	NP_000124.1:p.Asn138His
NM_001313913.1:c.298A>C	NP_001300842.1:p.Asn100His
XM_005262397.3:c.392-2679A>C	XP_005262454.1:n.392-2679A>C
XM_005262397.4:c.392-2679A>C	XP_005262454.1:n.392-2679A>C
NM_000133.4:c.412A>C MANE Select	NP_000124.1:p.Asn138His
NM_001313913.2:c.298A>C	NP_001300842.1:p.Asn100His