Canonical Allele Identifier: CA414447227

Gene: F9

Linked Data

• MyVariant Identifiers: chrX:g.138644149T>G (hg19) ; chrX:g.139561990T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561990T>G , CM000685.2:g.139561990T>G	GRCh38
NC_000023.10:g.138644149T>G , CM000685.1:g.138644149T>G	GRCh37
NC_000023.9:g.138471815T>G	NCBI36
NG_007994.1:g.36255T>G , LRG_556:g.36255T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1305T>G MANE Select	ENSP00000218099.2:p.Cys435Trp
ENST00000643157.1:n.1723+249T>G
ENST00000218099.6:c.1305T>G	ENSP00000218099.2:p.Cys435Trp
ENST00000394090.2:c.1191T>G	ENSP00000377650.2:p.Cys397Trp
NM_000133.3:c.1305T>G , LRG_556t1:c.1305T>G	NP_000124.1:p.Cys435Trp
NM_001313913.1:c.1191T>G	NP_001300842.1:p.Cys397Trp
XM_005262397.3:c.1176T>G	XP_005262454.1:p.Cys392Trp
XM_005262397.4:c.1176T>G	XP_005262454.1:p.Cys392Trp
NM_000133.4:c.1305T>G MANE Select	NP_000124.1:p.Cys435Trp
NM_001313913.2:c.1191T>G	NP_001300842.1:p.Cys397Trp