Canonical Allele Identifier: CA414441139

Gene: F9

Linked Data

• MyVariant Identifiers: chrX:g.138633379G>C (hg19) ; chrX:g.139551220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551220G>C , CM000685.2:g.139551220G>C	GRCh38
NC_000023.10:g.138633379G>C , CM000685.1:g.138633379G>C	GRCh37
NC_000023.9:g.138461045G>C	NCBI36
NG_007994.1:g.25485G>C , LRG_556:g.25485G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.679G>C MANE Select	ENSP00000218099.2:p.Val227Leu
ENST00000643157.1:n.1346G>C
ENST00000218099.6:c.679G>C	ENSP00000218099.2:p.Val227Leu
ENST00000394090.2:c.565G>C	ENSP00000377650.2:p.Val189Leu
NM_000133.3:c.679G>C , LRG_556t1:c.679G>C	NP_000124.1:p.Val227Leu
NM_001313913.1:c.565G>C	NP_001300842.1:p.Val189Leu
XM_005262397.3:c.550G>C	XP_005262454.1:p.Val184Leu
XM_005262397.4:c.550G>C	XP_005262454.1:p.Val184Leu
NM_000133.4:c.679G>C MANE Select	NP_000124.1:p.Val227Leu
NM_001313913.2:c.565G>C	NP_001300842.1:p.Val189Leu