Canonical Allele Identifier: CA3163907

Gene: F11

Linked Data

• dbSNP Id: rs767571989
• ExAC: 4:187205249 G / A
• gnomAD v2: 4-187205249-G-A
• MyVariant Identifiers: chr4:g.187205249G>A (hg19) ; chr4:g.186284095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284095G>A , CM000666.2:g.186284095G>A	GRCh38
NC_000004.11:g.187205249G>A , CM000666.1:g.187205249G>A	GRCh37
NC_000004.10:g.187442243G>A	NCBI36
NG_008051.1:g.23132G>A , LRG_583:g.23132G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1139G>A MANE Select	ENSP00000384957.2:p.Cys380Tyr
ENST00000264692.8:c.977G>A	ENSP00000264692.5:p.Cys326Tyr
ENST00000403665.6:c.1139G>A	ENSP00000384957.2:p.Cys380Tyr
NM_000128.3:c.1139G>A , LRG_583t1:c.1139G>A	NP_000119.1:p.Cys380Tyr
XM_005262821.2:c.1142G>A	XP_005262878.1:p.Cys381Tyr
XM_005262822.2:c.1142G>A	XP_005262879.1:p.Cys381Tyr
XM_005262823.2:c.872G>A	XP_005262880.1:p.Cys291Tyr
XM_005262824.1:c.1142G>A	XP_005262881.1:p.Cys381Tyr
XM_006714137.1:c.1094G>A	XP_006714200.1:p.Cys365Tyr
XR_938706.1:n.1547G>A
XR_938707.1:n.1547G>A
XM_005262821.4:c.1142G>A	XP_005262878.1:p.Cys381Tyr
XM_005262822.4:c.1142G>A	XP_005262879.1:p.Cys381Tyr
XM_005262823.4:c.872G>A	XP_005262880.1:p.Cys291Tyr
XM_006714137.3:c.1094G>A	XP_006714200.1:p.Cys365Tyr
XM_017007884.2:c.*2111G>A	XP_016863373.1:n.*2111G>A
XM_017007885.2:c.*7G>A	XP_016863374.1:n.*7G>A
XR_001741172.2:n.1613G>A
NM_000128.4:c.1139G>A MANE Select	NP_000119.1:p.Cys380Tyr