Canonical Allele Identifier: CA5966963

Gene: F2

Linked Data

• ClinVar Variation Id: 756801
• ClinVar RCV Id: RCV000934327 ; RCV001106755 ; RCV001106756
• dbSNP Id: rs144857547
• ExAC: 11:46745004 G / A
• gnomAD v2: 11-46745004-G-A
• gnomAD v3: 11-46723454-G-A
• gnomAD v4: 11-46723454-G-A
• MyVariant Identifiers: chr11:g.46745004G>A (hg19) ; chr11:g.46723454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46723454G>A , CM000673.2:g.46723454G>A	GRCh38
NC_000011.9:g.46745004G>A , CM000673.1:g.46745004G>A	GRCh37
NC_000011.8:g.46701580G>A	NCBI36
NG_008953.1:g.9262G>A , LRG_551:g.9262G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.495G>A MANE Select	ENSP00000308541.5:p.Thr165=
ENST00000311907.9:c.495G>A	ENSP00000308541.5:p.Thr165=
ENST00000442468.1:c.465G>A	ENSP00000387413.1:p.Thr155=
ENST00000490274.1:n.275G>A
ENST00000530231.5:c.495G>A	ENSP00000433907.1:p.Thr165=
NM_000506.3:c.495G>A	NP_000497.1:p.Thr165=
NM_000506.4:c.495G>A , LRG_551t1:c.495G>A	NP_000497.1:p.Thr165=
NM_001311257.1:c.447G>A	NP_001298186.1:p.Thr149=
XR_428840.2:n.539G>A
XR_428840.4:n.530G>A
NM_000506.5:c.495G>A MANE Select	NP_000497.1:p.Thr165=
NM_001311257.2:c.447G>A	NP_001298186.1:p.Thr149=