Canonical Allele Identifier: CA221652663

Gene: F2

Linked Data

• dbSNP Id: rs911589715
• gnomAD v3: 11-46726530-C-G
• gnomAD v4: 11-46726530-C-G
• MyVariant Identifiers: chr11:g.46748080C>G (hg19) ; chr11:g.46726530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726530C>G , CM000673.2:g.46726530C>G	GRCh38
NC_000011.9:g.46748080C>G , CM000673.1:g.46748080C>G	GRCh37
NC_000011.8:g.46704656C>G	NCBI36
NG_008953.1:g.12338C>G , LRG_551:g.12338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.907C>G MANE Select	ENSP00000308541.5:p.Leu303Val
ENST00000311907.9:c.907C>G	ENSP00000308541.5:p.Leu303Val
ENST00000442468.1:c.877C>G	ENSP00000387413.1:p.Leu293Val
ENST00000530231.5:c.907C>G	ENSP00000433907.1:p.Leu303Val
NM_000506.3:c.907C>G	NP_000497.1:p.Leu303Val
NM_000506.4:c.907C>G , LRG_551t1:c.907C>G	NP_000497.1:p.Leu303Val
NM_001311257.1:c.859C>G	NP_001298186.1:p.Leu287Val
XR_428840.2:n.951C>G
XR_428840.4:n.942C>G
NM_000506.5:c.907C>G MANE Select	NP_000497.1:p.Leu303Val
NM_001311257.2:c.859C>G	NP_001298186.1:p.Leu287Val