Canonical Allele Identifier: CA3163914

Gene: F11

Linked Data

• dbSNP Id: rs745516841
• ExAC: 4:187205295 T / A
• gnomAD v2: 4-187205295-T-A
• MyVariant Identifiers: chr4:g.187205295T>A (hg19) ; chr4:g.186284141T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284141T>A , CM000666.2:g.186284141T>A	GRCh38
NC_000004.11:g.187205295T>A , CM000666.1:g.187205295T>A	GRCh37
NC_000004.10:g.187442289T>A	NCBI36
NG_008051.1:g.23178T>A , LRG_583:g.23178T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1185T>A MANE Select	ENSP00000384957.2:p.Val395=
ENST00000264692.8:c.1023T>A	ENSP00000264692.5:p.Val341=
ENST00000403665.6:c.1185T>A	ENSP00000384957.2:p.Val395=
NM_000128.3:c.1185T>A , LRG_583t1:c.1185T>A	NP_000119.1:p.Val395=
XM_005262821.2:c.1188T>A	XP_005262878.1:p.Val396=
XM_005262822.2:c.1188T>A	XP_005262879.1:p.Val396=
XM_005262823.2:c.918T>A	XP_005262880.1:p.Val306=
XM_005262824.1:c.1188T>A	XP_005262881.1:p.Val396=
XM_006714137.1:c.1140T>A	XP_006714200.1:p.Val380=
XR_938706.1:n.1593T>A
XR_938707.1:n.1593T>A
XM_005262821.4:c.1188T>A	XP_005262878.1:p.Val396=
XM_005262822.4:c.1188T>A	XP_005262879.1:p.Val396=
XM_005262823.4:c.918T>A	XP_005262880.1:p.Val306=
XM_006714137.3:c.1140T>A	XP_006714200.1:p.Val380=
XM_017007884.2:c.*2157T>A	XP_016863373.1:n.*2157T>A
XM_017007885.2:c.*53T>A	XP_016863374.1:n.*53T>A
XR_001741172.2:n.1659T>A
NM_000128.4:c.1185T>A MANE Select	NP_000119.1:p.Val395=