Canonical Allele Identifier: CA3163977

Gene: F11

Linked Data

• ClinVar Variation Id: 2057332
• ClinVar RCV Id: RCV002941967
• dbSNP Id: rs778648408
• ExAC: 4:187206900 G / A
• gnomAD v3: 4-186285746-G-A
• gnomAD v4: 4-186285746-G-A
• MyVariant Identifiers: chr4:g.187206900G>A (hg19) ; chr4:g.186285746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285746G>A , CM000666.2:g.186285746G>A	GRCh38
NC_000004.11:g.187206900G>A , CM000666.1:g.187206900G>A	GRCh37
NC_000004.10:g.187443894G>A	NCBI36
NG_008051.1:g.24783G>A , LRG_583:g.24783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1413G>A MANE Select	ENSP00000384957.2:p.Gln471=
ENST00000264691.4:c.109G>A
ENST00000264692.8:c.1251G>A	ENSP00000264692.5:p.Gln417=
ENST00000403665.6:c.1413G>A	ENSP00000384957.2:p.Gln471=
NM_000128.3:c.1413G>A , LRG_583t1:c.1413G>A	NP_000119.1:p.Gln471=
XM_005262821.2:c.1416G>A	XP_005262878.1:p.Gln472=
XM_005262822.2:c.1416G>A	XP_005262879.1:p.Gln472=
XM_005262823.2:c.1146G>A	XP_005262880.1:p.Gln382=
XM_005262824.1:c.1416G>A	XP_005262881.1:p.Gln472=
XM_006714137.1:c.1368G>A	XP_006714200.1:p.Gln456=
XR_938706.1:n.1821G>A
XR_938707.1:n.1821G>A
XM_005262821.4:c.1416G>A	XP_005262878.1:p.Gln472=
XM_005262822.4:c.1416G>A	XP_005262879.1:p.Gln472=
XM_005262823.4:c.1146G>A	XP_005262880.1:p.Gln382=
XM_006714137.3:c.1368G>A	XP_006714200.1:p.Gln456=
XR_001741172.2:n.1887G>A
NM_000128.4:c.1413G>A MANE Select	NP_000119.1:p.Gln471=