Canonical Allele Identifier: CA3163867

Gene: F11

Linked Data

• ClinVar Variation Id: 1482231
• ClinVar RCV Id: RCV002002875 ; RCV002280909
• dbSNP Id: rs777714867
• ExAC: 4:187201659 G / A
• gnomAD v2: 4-187201659-G-A
• gnomAD v4: 4-186280505-G-A
• MyVariant Identifiers: chr4:g.187201659G>A (hg19) ; chr4:g.186280505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280505G>A , CM000666.2:g.186280505G>A	GRCh38
NC_000004.11:g.187201659G>A , CM000666.1:g.187201659G>A	GRCh37
NC_000004.10:g.187438653G>A	NCBI36
NG_008051.1:g.19542G>A , LRG_583:g.19542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1060G>A MANE Select	ENSP00000384957.2:p.Gly354Arg
ENST00000264692.8:c.898G>A	ENSP00000264692.5:p.Gly300Arg
ENST00000403665.6:c.1060G>A	ENSP00000384957.2:p.Gly354Arg
ENST00000452239.1:c.507G>A
NM_000128.3:c.1060G>A , LRG_583t1:c.1060G>A	NP_000119.1:p.Gly354Arg
XM_005262821.2:c.1063G>A	XP_005262878.1:p.Gly355Arg
XM_005262822.2:c.1063G>A	XP_005262879.1:p.Gly355Arg
XM_005262823.2:c.793G>A	XP_005262880.1:p.Gly265Arg
XM_005262824.1:c.1063G>A	XP_005262881.1:p.Gly355Arg
XM_006714137.1:c.1015G>A	XP_006714200.1:p.Gly339Arg
XR_938706.1:n.1415G>A
XR_938707.1:n.1415G>A
XM_005262821.4:c.1063G>A	XP_005262878.1:p.Gly355Arg
XM_005262822.4:c.1063G>A	XP_005262879.1:p.Gly355Arg
XM_005262823.4:c.793G>A	XP_005262880.1:p.Gly265Arg
XM_006714137.3:c.1015G>A	XP_006714200.1:p.Gly339Arg
XM_017007884.2:c.1063G>A	XP_016863373.1:p.Gly355Arg
XM_017007885.2:c.1063G>A	XP_016863374.1:p.Gly355Arg
XM_017007886.2:c.1060G>A	XP_016863375.1:p.Gly354Arg
XR_001741172.2:n.1481G>A
NM_000128.4:c.1060G>A MANE Select	NP_000119.1:p.Gly354Arg