Canonical Allele Identifier: CA414446750

Gene: F9

Linked Data

• ClinVar Variation Id: 811507
• ClinVar RCV Id: RCV001001421
• dbSNP Id: rs1603267443
• MyVariant Identifiers: chrX:g.138644085C>T (hg19) ; chrX:g.139561926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561926C>T , CM000685.2:g.139561926C>T	GRCh38
NC_000023.10:g.138644085C>T , CM000685.1:g.138644085C>T	GRCh37
NC_000023.9:g.138471751C>T	NCBI36
NG_007994.1:g.36191C>T , LRG_556:g.36191C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1241C>T MANE Select	ENSP00000218099.2:p.Pro414Leu
ENST00000643157.1:n.1723+185C>T
ENST00000218099.6:c.1241C>T	ENSP00000218099.2:p.Pro414Leu
ENST00000394090.2:c.1127C>T	ENSP00000377650.2:p.Pro376Leu
NM_000133.3:c.1241C>T , LRG_556t1:c.1241C>T	NP_000124.1:p.Pro414Leu
NM_001313913.1:c.1127C>T	NP_001300842.1:p.Pro376Leu
XM_005262397.3:c.1112C>T	XP_005262454.1:p.Pro371Leu
XM_005262397.4:c.1112C>T	XP_005262454.1:p.Pro371Leu
NM_000133.4:c.1241C>T MANE Select	NP_000124.1:p.Pro414Leu
NM_001313913.2:c.1127C>T	NP_001300842.1:p.Pro376Leu