Canonical Allele Identifier: CA221651688

Gene: F2

Linked Data

• dbSNP Id: rs987452107
• gnomAD v2: 11-46747271-C-T
• gnomAD v3: 11-46725721-C-T
• gnomAD v4: 11-46725721-C-T
• MyVariant Identifiers: chr11:g.46747271C>T (hg19) ; chr11:g.46725721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725721C>T , CM000673.2:g.46725721C>T	GRCh38
NC_000011.9:g.46747271C>T , CM000673.1:g.46747271C>T	GRCh37
NC_000011.8:g.46703847C>T	NCBI36
NG_008953.1:g.11529C>T , LRG_551:g.11529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.560-138C>T MANE Select	ENSP00000308541.5:n.560-138C>T
ENST00000311907.9:c.560-138C>T	ENSP00000308541.5:n.560-138C>T
ENST00000442468.1:c.530-138C>T	ENSP00000387413.1:n.530-138C>T
ENST00000490274.1:n.340-138C>T
ENST00000530231.5:c.560-138C>T	ENSP00000433907.1:n.560-138C>T
NM_000506.3:c.560-138C>T	NP_000497.1:n.560-138C>T
NM_000506.4:c.560-138C>T , LRG_551t1:c.560-138C>T	NP_000497.1:n.560-138C>T
NM_001311257.1:c.512-138C>T	NP_001298186.1:n.512-138C>T
XR_428840.2:n.604-138C>T
XR_428840.4:n.595-138C>T
NM_000506.5:c.560-138C>T MANE Select	NP_000497.1:n.560-138C>T
NM_001311257.2:c.512-138C>T	NP_001298186.1:n.512-138C>T