Canonical Allele Identifier: CA112102701

Gene: F11

Linked Data

• dbSNP Id: rs4253424
• gnomAD v2: 4-187205712-T-A
• gnomAD v3: 4-186284558-T-A
• gnomAD v4: 4-186284558-T-A
• MyVariant Identifiers: chr4:g.187205712T>A (hg19) ; chr4:g.186284558T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284558T>A , CM000666.2:g.186284558T>A	GRCh38
NC_000004.11:g.187205712T>A , CM000666.1:g.187205712T>A	GRCh37
NC_000004.10:g.187442706T>A	NCBI36
NG_008051.1:g.23595T>A , LRG_583:g.23595T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1304+298T>A MANE Select	ENSP00000384957.2:n.1304+298T>A
ENST00000264692.8:c.1142+298T>A	ENSP00000264692.5:n.1142+298T>A
ENST00000403665.6:c.1304+298T>A	ENSP00000384957.2:n.1304+298T>A
NM_000128.3:c.1304+298T>A , LRG_583t1:c.1304+298T>A	NP_000119.1:n.1304+298T>A
XM_005262821.2:c.1307+298T>A	XP_005262878.1:n.1307+298T>A
XM_005262822.2:c.1307+298T>A	XP_005262879.1:n.1307+298T>A
XM_005262823.2:c.1037+298T>A	XP_005262880.1:n.1037+298T>A
XM_005262824.1:c.1307+298T>A	XP_005262881.1:n.1307+298T>A
XM_006714137.1:c.1259+298T>A	XP_006714200.1:n.1259+298T>A
XR_938706.1:n.1712+298T>A
XR_938707.1:n.1712+298T>A
XM_005262821.4:c.1307+298T>A	XP_005262878.1:n.1307+298T>A
XM_005262822.4:c.1307+298T>A	XP_005262879.1:n.1307+298T>A
XM_005262823.4:c.1037+298T>A	XP_005262880.1:n.1037+298T>A
XM_006714137.3:c.1259+298T>A	XP_006714200.1:n.1259+298T>A
XR_001741172.2:n.1778+298T>A
NM_000128.4:c.1304+298T>A MANE Select	NP_000119.1:n.1304+298T>A