Canonical Allele Identifier: CA3163972

Gene: F11

Linked Data

• dbSNP Id: rs752420231
• ExAC: 4:187206878 A / G
• gnomAD v2: 4-187206878-A-G
• gnomAD v3: 4-186285724-A-G
• gnomAD v4: 4-186285724-A-G
• MyVariant Identifiers: chr4:g.187206878A>G (hg19) ; chr4:g.186285724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285724A>G , CM000666.2:g.186285724A>G	GRCh38
NC_000004.11:g.187206878A>G , CM000666.1:g.187206878A>G	GRCh37
NC_000004.10:g.187443872A>G	NCBI36
NG_008051.1:g.24761A>G , LRG_583:g.24761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1391A>G MANE Select	ENSP00000384957.2:p.Gln464Arg
ENST00000264691.4:c.87A>G
ENST00000264692.8:c.1229A>G	ENSP00000264692.5:p.Gln410Arg
ENST00000403665.6:c.1391A>G	ENSP00000384957.2:p.Gln464Arg
NM_000128.3:c.1391A>G , LRG_583t1:c.1391A>G	NP_000119.1:p.Gln464Arg
XM_005262821.2:c.1394A>G	XP_005262878.1:p.Gln465Arg
XM_005262822.2:c.1394A>G	XP_005262879.1:p.Gln465Arg
XM_005262823.2:c.1124A>G	XP_005262880.1:p.Gln375Arg
XM_005262824.1:c.1394A>G	XP_005262881.1:p.Gln465Arg
XM_006714137.1:c.1346A>G	XP_006714200.1:p.Gln449Arg
XR_938706.1:n.1799A>G
XR_938707.1:n.1799A>G
XM_005262821.4:c.1394A>G	XP_005262878.1:p.Gln465Arg
XM_005262822.4:c.1394A>G	XP_005262879.1:p.Gln465Arg
XM_005262823.4:c.1124A>G	XP_005262880.1:p.Gln375Arg
XM_006714137.3:c.1346A>G	XP_006714200.1:p.Gln449Arg
XR_001741172.2:n.1865A>G
NM_000128.4:c.1391A>G MANE Select	NP_000119.1:p.Gln464Arg