Canonical Allele Identifier: CA380263193

Gene: F2

Linked Data

• ClinVar Variation Id: 2488512
• ClinVar RCV Id: RCV003217503
• MyVariant Identifiers: chr11:g.46745009C>T (hg19) ; chr11:g.46723459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46723459C>T , CM000673.2:g.46723459C>T	GRCh38
NC_000011.9:g.46745009C>T , CM000673.1:g.46745009C>T	GRCh37
NC_000011.8:g.46701585C>T	NCBI36
NG_008953.1:g.9267C>T , LRG_551:g.9267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.500C>T MANE Select	ENSP00000308541.5:p.Pro167Leu
ENST00000311907.9:c.500C>T	ENSP00000308541.5:p.Pro167Leu
ENST00000442468.1:c.470C>T	ENSP00000387413.1:p.Pro157Leu
ENST00000490274.1:n.280C>T
ENST00000530231.5:c.500C>T	ENSP00000433907.1:p.Pro167Leu
NM_000506.3:c.500C>T	NP_000497.1:p.Pro167Leu
NM_000506.4:c.500C>T , LRG_551t1:c.500C>T	NP_000497.1:p.Pro167Leu
NM_001311257.1:c.452C>T	NP_001298186.1:p.Pro151Leu
XR_428840.2:n.544C>T
XR_428840.4:n.535C>T
NM_000506.5:c.500C>T MANE Select	NP_000497.1:p.Pro167Leu
NM_001311257.2:c.452C>T	NP_001298186.1:p.Pro151Leu