Canonical Allele Identifier: CA5966772

Gene: F2

Linked Data

• ClinVar Variation Id: 304806
• ClinVar RCV Id: RCV000279364 ; RCV000956935 ; RCV001618530 ; RCV001823724
• dbSNP Id: rs3136431
• ExAC: 11:46740871 G / A
• gnomAD v2: 11-46740871-G-A
• gnomAD v3: 11-46719321-G-A
• gnomAD v4: 11-46719321-G-A
• MyVariant Identifiers: chr11:g.46740871G>A (hg19) ; chr11:g.46719321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46719321G>A , CM000673.2:g.46719321G>A	GRCh38
NC_000011.9:g.46740871G>A , CM000673.1:g.46740871G>A	GRCh37
NC_000011.8:g.46697447G>A	NCBI36
NG_008953.1:g.5129G>A , LRG_551:g.5129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.79+7G>A MANE Select	ENSP00000308541.5:n.79+7G>A
ENST00000311907.9:c.79+7G>A	ENSP00000308541.5:n.79+7G>A
ENST00000442468.1:c.-46G>A	ENSP00000387413.1:n.-46G>A
ENST00000469189.1:n.119+7G>A
ENST00000530231.5:c.79+7G>A	ENSP00000433907.1:n.79+7G>A
NM_000506.3:c.79+7G>A	NP_000497.1:n.79+7G>A
NM_000506.4:c.79+7G>A , LRG_551t1:c.79+7G>A	NP_000497.1:n.79+7G>A
NM_001311257.1:c.31+55G>A	NP_001298186.1:n.31+55G>A
XR_428840.2:n.123+7G>A
XR_428840.4:n.114+7G>A
NM_000506.5:c.79+7G>A MANE Select	NP_000497.1:n.79+7G>A
NM_001311257.2:c.31+55G>A	NP_001298186.1:n.31+55G>A