Canonical Allele Identifier: CA3163948

Gene: F11

Linked Data

• ClinVar Variation Id: 903592
• ClinVar RCV Id: RCV001513257 ; RCV001828572 ; RCV002249739 ; RCV003928751
• dbSNP Id: rs116667976
• ExAC: 4:187205426 G / A
• gnomAD v2: 4-187205426-G-A
• gnomAD v3: 4-186284272-G-A
• gnomAD v4: 4-186284272-G-A
• MyVariant Identifiers: chr4:g.187205426G>A (hg19) ; chr4:g.186284272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284272G>A , CM000666.2:g.186284272G>A	GRCh38
NC_000004.11:g.187205426G>A , CM000666.1:g.187205426G>A	GRCh37
NC_000004.10:g.187442420G>A	NCBI36
NG_008051.1:g.23309G>A , LRG_583:g.23309G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1304+12G>A MANE Select	ENSP00000384957.2:n.1304+12G>A
ENST00000264692.8:c.1142+12G>A	ENSP00000264692.5:n.1142+12G>A
ENST00000403665.6:c.1304+12G>A	ENSP00000384957.2:n.1304+12G>A
NM_000128.3:c.1304+12G>A , LRG_583t1:c.1304+12G>A	NP_000119.1:n.1304+12G>A
XM_005262821.2:c.1307+12G>A	XP_005262878.1:n.1307+12G>A
XM_005262822.2:c.1307+12G>A	XP_005262879.1:n.1307+12G>A
XM_005262823.2:c.1037+12G>A	XP_005262880.1:n.1037+12G>A
XM_005262824.1:c.1307+12G>A	XP_005262881.1:n.1307+12G>A
XM_006714137.1:c.1259+12G>A	XP_006714200.1:n.1259+12G>A
XR_938706.1:n.1712+12G>A
XR_938707.1:n.1712+12G>A
XM_005262821.4:c.1307+12G>A	XP_005262878.1:n.1307+12G>A
XM_005262822.4:c.1307+12G>A	XP_005262879.1:n.1307+12G>A
XM_005262823.4:c.1037+12G>A	XP_005262880.1:n.1037+12G>A
XM_006714137.3:c.1259+12G>A	XP_006714200.1:n.1259+12G>A
XR_001741172.2:n.1778+12G>A
NM_000128.4:c.1304+12G>A MANE Select	NP_000119.1:n.1304+12G>A