Canonical Allele Identifier: CA3163908

Gene: F11

Linked Data

• dbSNP Id: rs376661424
• ExAC: 4:187205250 T / C
• gnomAD v2: 4-187205250-T-C
• gnomAD v3: 4-186284096-T-C
• gnomAD v4: 4-186284096-T-C
• MyVariant Identifiers: chr4:g.187205250T>C (hg19) ; chr4:g.186284096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284096T>C , CM000666.2:g.186284096T>C	GRCh38
NC_000004.11:g.187205250T>C , CM000666.1:g.187205250T>C	GRCh37
NC_000004.10:g.187442244T>C	NCBI36
NG_008051.1:g.23133T>C , LRG_583:g.23133T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1140T>C MANE Select	ENSP00000384957.2:p.Cys380=
ENST00000264692.8:c.978T>C	ENSP00000264692.5:p.Cys326=
ENST00000403665.6:c.1140T>C	ENSP00000384957.2:p.Cys380=
NM_000128.3:c.1140T>C , LRG_583t1:c.1140T>C	NP_000119.1:p.Cys380=
XM_005262821.2:c.1143T>C	XP_005262878.1:p.Cys381=
XM_005262822.2:c.1143T>C	XP_005262879.1:p.Cys381=
XM_005262823.2:c.873T>C	XP_005262880.1:p.Cys291=
XM_005262824.1:c.1143T>C	XP_005262881.1:p.Cys381=
XM_006714137.1:c.1095T>C	XP_006714200.1:p.Cys365=
XR_938706.1:n.1548T>C
XR_938707.1:n.1548T>C
XM_005262821.4:c.1143T>C	XP_005262878.1:p.Cys381=
XM_005262822.4:c.1143T>C	XP_005262879.1:p.Cys381=
XM_005262823.4:c.873T>C	XP_005262880.1:p.Cys291=
XM_006714137.3:c.1095T>C	XP_006714200.1:p.Cys365=
XM_017007884.2:c.*2112T>C	XP_016863373.1:n.*2112T>C
XM_017007885.2:c.*8T>C	XP_016863374.1:n.*8T>C
XR_001741172.2:n.1614T>C
NM_000128.4:c.1140T>C MANE Select	NP_000119.1:p.Cys380=