Canonical Allele Identifier: CA3163786

Gene: F11

Linked Data

• ClinVar Variation Id: 551022
• ClinVar RCV Id: RCV000665972
• dbSNP Id: rs201688862
• ExAC: 4:187201213 G / A
• gnomAD v2: 4-187201213-G-A
• gnomAD v3: 4-186280059-G-A
• gnomAD v4: 4-186280059-G-A
• COSMIC: COSM481124
• MyVariant Identifiers: chr4:g.187201213G>A (hg19) ; chr4:g.186280059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280059G>A , CM000666.2:g.186280059G>A	GRCh38
NC_000004.11:g.187201213G>A , CM000666.1:g.187201213G>A	GRCh37
NC_000004.10:g.187438207G>A	NCBI36
NG_008051.1:g.19096G>A , LRG_583:g.19096G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.803G>A MANE Select	ENSP00000384957.2:p.Arg268His
ENST00000264692.8:c.641G>A	ENSP00000264692.5:p.Arg214His
ENST00000403665.6:c.803G>A	ENSP00000384957.2:p.Arg268His
ENST00000452239.1:c.250G>A
NM_000128.3:c.803G>A , LRG_583t1:c.803G>A	NP_000119.1:p.Arg268His
XM_005262821.2:c.803G>A	XP_005262878.1:p.Arg268His
XM_005262822.2:c.803G>A	XP_005262879.1:p.Arg268His
XM_005262823.2:c.533G>A	XP_005262880.1:p.Arg178His
XM_005262824.1:c.803G>A	XP_005262881.1:p.Arg268His
XM_006714137.1:c.803G>A	XP_006714200.1:p.Arg268His
XR_938706.1:n.1155G>A
XR_938707.1:n.1155G>A
XM_005262821.4:c.803G>A	XP_005262878.1:p.Arg268His
XM_005262822.4:c.803G>A	XP_005262879.1:p.Arg268His
XM_005262823.4:c.533G>A	XP_005262880.1:p.Arg178His
XM_006714137.3:c.803G>A	XP_006714200.1:p.Arg268His
XM_017007884.2:c.803G>A	XP_016863373.1:p.Arg268His
XM_017007885.2:c.803G>A	XP_016863374.1:p.Arg268His
XM_017007886.2:c.803G>A	XP_016863375.1:p.Arg268His
XR_001741172.2:n.1136G>A
NM_000128.4:c.803G>A MANE Select	NP_000119.1:p.Arg268His