Canonical Allele Identifier: CA3163835

Gene: F11

Linked Data

• ClinVar Variation Id: 1076510
• ClinVar RCV Id: RCV001390454
• dbSNP Id: rs745901569
• ExAC: 4:187201528 C / A
• gnomAD v2: 4-187201528-C-A
• gnomAD v4: 4-186280374-C-A
• MyVariant Identifiers: chr4:g.187201528C>A (hg19) ; chr4:g.186280374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280374C>A , CM000666.2:g.186280374C>A	GRCh38
NC_000004.11:g.187201528C>A , CM000666.1:g.187201528C>A	GRCh37
NC_000004.10:g.187438522C>A	NCBI36
NG_008051.1:g.19411C>A , LRG_583:g.19411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1017C>A MANE Select	ENSP00000384957.2:p.Cys339Ter
ENST00000264692.8:c.855C>A	ENSP00000264692.5:p.Cys285Ter
ENST00000403665.6:c.1017C>A	ENSP00000384957.2:p.Cys339Ter
ENST00000452239.1:c.464C>A
NM_000128.3:c.1017C>A , LRG_583t1:c.1017C>A	NP_000119.1:p.Cys339Ter
XM_005262821.2:c.1017C>A	XP_005262878.1:p.Cys339Ter
XM_005262822.2:c.1017C>A	XP_005262879.1:p.Cys339Ter
XM_005262823.2:c.747C>A	XP_005262880.1:p.Cys249Ter
XM_005262824.1:c.1017C>A	XP_005262881.1:p.Cys339Ter
XM_006714137.1:c.969C>A	XP_006714200.1:p.Cys323Ter
XR_938706.1:n.1369C>A
XR_938707.1:n.1369C>A
XM_005262821.4:c.1017C>A	XP_005262878.1:p.Cys339Ter
XM_005262822.4:c.1017C>A	XP_005262879.1:p.Cys339Ter
XM_005262823.4:c.747C>A	XP_005262880.1:p.Cys249Ter
XM_006714137.3:c.969C>A	XP_006714200.1:p.Cys323Ter
XM_017007884.2:c.1017C>A	XP_016863373.1:p.Cys339Ter
XM_017007885.2:c.1017C>A	XP_016863374.1:p.Cys339Ter
XM_017007886.2:c.1017C>A	XP_016863375.1:p.Cys339Ter
XR_001741172.2:n.1350C>A
NM_000128.4:c.1017C>A MANE Select	NP_000119.1:p.Cys339Ter