Canonical Allele Identifier: CA5967215

Gene: F2

Linked Data

• dbSNP Id: rs778069348
• ExAC: 11:46749664 T / A
• gnomAD v2: 11-46749664-T-A
• MyVariant Identifiers: chr11:g.46749664T>A (hg19) ; chr11:g.46728114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728114T>A , CM000673.2:g.46728114T>A	GRCh38
NC_000011.9:g.46749664T>A , CM000673.1:g.46749664T>A	GRCh37
NC_000011.8:g.46706240T>A	NCBI36
NG_008953.1:g.13922T>A , LRG_551:g.13922T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1249T>A MANE Select	ENSP00000308541.5:p.Phe417Ile
ENST00000311907.9:c.1249T>A	ENSP00000308541.5:p.Phe417Ile
ENST00000530231.5:c.1249T>A	ENSP00000433907.1:p.Phe417Ile
NM_000506.3:c.1249T>A	NP_000497.1:p.Phe417Ile
NM_000506.4:c.1249T>A , LRG_551t1:c.1249T>A	NP_000497.1:p.Phe417Ile
NM_001311257.1:c.1201T>A	NP_001298186.1:p.Phe401Ile
XR_428840.2:n.1293T>A
XR_428840.4:n.1284T>A
NM_000506.5:c.1249T>A MANE Select	NP_000497.1:p.Phe417Ile
NM_001311257.2:c.1201T>A	NP_001298186.1:p.Phe401Ile