Canonical Allele Identifier: CA518917133
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2931105
ClinVar RCV Id: RCV003782367
MyVariant Identifiers: chrX:g.138644074T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561915T>C , CM000685.2:g.139561915T>C GRCh38
NC_000023.10:g.138644074T>C , CM000685.1:g.138644074T>C GRCh37
NC_000023.9:g.138471740T>C NCBI36
NG_007994.1:g.36180T>C , LRG_556:g.36180T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218099.7:c.1230T>C MANE Select ENSP00000218099.2:p.Asp410=
ENST00000643157.1:n.1723+174T>C
ENST00000218099.6:c.1230T>C ENSP00000218099.2:p.Asp410=
ENST00000394090.2:c.1116T>C ENSP00000377650.2:p.Asp372=
NM_000133.3:c.1230T>C , LRG_556t1:c.1230T>C NP_000124.1:p.Asp410=
NM_001313913.1:c.1116T>C NP_001300842.1:p.Asp372=
XM_005262397.3:c.1101T>C XP_005262454.1:p.Asp367=
XM_005262397.4:c.1101T>C XP_005262454.1:p.Asp367=
NM_000133.4:c.1230T>C MANE Select NP_000124.1:p.Asp410=
NM_001313913.2:c.1116T>C NP_001300842.1:p.Asp372=