Canonical Allele Identifier: CA3163906

Gene: F11

Linked Data

• ClinVar Variation Id: 2731075
• ClinVar RCV Id: RCV003579908
• dbSNP Id: rs372438892
• ExAC: 4:187205234 C / G
• gnomAD v2: 4-187205234-C-G
• gnomAD v3: 4-186284080-C-G
• gnomAD v4: 4-186284080-C-G
• MyVariant Identifiers: chr4:g.187205234C>G (hg19) ; chr4:g.186284080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284080C>G , CM000666.2:g.186284080C>G	GRCh38
NC_000004.11:g.187205234C>G , CM000666.1:g.187205234C>G	GRCh37
NC_000004.10:g.187442228C>G	NCBI36
NG_008051.1:g.23117C>G , LRG_583:g.23117C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1136-12C>G MANE Select	ENSP00000384957.2:n.1136-12C>G
ENST00000264692.8:c.974-12C>G	ENSP00000264692.5:n.974-12C>G
ENST00000403665.6:c.1136-12C>G	ENSP00000384957.2:n.1136-12C>G
NM_000128.3:c.1136-12C>G , LRG_583t1:c.1136-12C>G	NP_000119.1:n.1136-12C>G
XM_005262821.2:c.1139-12C>G	XP_005262878.1:n.1139-12C>G
XM_005262822.2:c.1139-12C>G	XP_005262879.1:n.1139-12C>G
XM_005262823.2:c.869-12C>G	XP_005262880.1:n.869-12C>G
XM_005262824.1:c.1139-12C>G	XP_005262881.1:n.1139-12C>G
XM_006714137.1:c.1091-12C>G	XP_006714200.1:n.1091-12C>G
XR_938706.1:n.1544-12C>G
XR_938707.1:n.1544-12C>G
XM_005262821.4:c.1139-12C>G	XP_005262878.1:n.1139-12C>G
XM_005262822.4:c.1139-12C>G	XP_005262879.1:n.1139-12C>G
XM_005262823.4:c.869-12C>G	XP_005262880.1:n.869-12C>G
XM_006714137.3:c.1091-12C>G	XP_006714200.1:n.1091-12C>G
XM_017007884.2:c.*2096C>G	XP_016863373.1:n.*2096C>G
XM_017007885.2:c.*4-12C>G	XP_016863374.1:n.*4-12C>G
XR_001741172.2:n.1610-12C>G
NM_000128.4:c.1136-12C>G MANE Select	NP_000119.1:n.1136-12C>G