Canonical Allele Identifier: CA3163932

Gene: F11

Linked Data

• ClinVar Variation Id: 371565
• ClinVar RCV Id: RCV000411689 ; RCV002523881
• dbSNP Id: rs779802284
• ExAC: 4:187205357 G / A
• gnomAD v2: 4-187205357-G-A
• gnomAD v3: 4-186284203-G-A
• gnomAD v4: 4-186284203-G-A
• MyVariant Identifiers: chr4:g.187205357G>A (hg19) ; chr4:g.186284203G>A (hg38)
• PubMed: PMID:15634276 ; PMID:15728123 ; PMID:16835901 ; PMID:18024374 ; PMID:25074526

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284203G>A , CM000666.2:g.186284203G>A	GRCh38
NC_000004.11:g.187205357G>A , CM000666.1:g.187205357G>A	GRCh37
NC_000004.10:g.187442351G>A	NCBI36
NG_008051.1:g.23240G>A , LRG_583:g.23240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1247G>A MANE Select	ENSP00000384957.2:p.Cys416Tyr
ENST00000264692.8:c.1085G>A	ENSP00000264692.5:p.Cys362Tyr
ENST00000403665.6:c.1247G>A	ENSP00000384957.2:p.Cys416Tyr
NM_000128.3:c.1247G>A , LRG_583t1:c.1247G>A	NP_000119.1:p.Cys416Tyr
XM_005262821.2:c.1250G>A	XP_005262878.1:p.Cys417Tyr
XM_005262822.2:c.1250G>A	XP_005262879.1:p.Cys417Tyr
XM_005262823.2:c.980G>A	XP_005262880.1:p.Cys327Tyr
XM_005262824.1:c.1250G>A	XP_005262881.1:p.Cys417Tyr
XM_006714137.1:c.1202G>A	XP_006714200.1:p.Cys401Tyr
XR_938706.1:n.1655G>A
XR_938707.1:n.1655G>A
XM_005262821.4:c.1250G>A	XP_005262878.1:p.Cys417Tyr
XM_005262822.4:c.1250G>A	XP_005262879.1:p.Cys417Tyr
XM_005262823.4:c.980G>A	XP_005262880.1:p.Cys327Tyr
XM_006714137.3:c.1202G>A	XP_006714200.1:p.Cys401Tyr
XR_001741172.2:n.1721G>A
NM_000128.4:c.1247G>A MANE Select	NP_000119.1:p.Cys416Tyr