Canonical Allele Identifier: CA3163676

Gene: F11

Linked Data

• dbSNP Id: rs762399313
• ExAC: 4:187195460 G / A
• gnomAD v2: 4-187195460-G-A
• gnomAD v3: 4-186274306-G-A
• gnomAD v4: 4-186274306-G-A
• MyVariant Identifiers: chr4:g.187195460G>A (hg19) ; chr4:g.186274306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186274306G>A , CM000666.2:g.186274306G>A	GRCh38
NC_000004.11:g.187195460G>A , CM000666.1:g.187195460G>A	GRCh37
NC_000004.10:g.187432454G>A	NCBI36
NG_008051.1:g.13343G>A , LRG_583:g.13343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.485+31G>A MANE Select	ENSP00000384957.2:n.485+31G>A
ENST00000264692.8:c.323+1131G>A	ENSP00000264692.5:n.323+1131G>A
ENST00000403665.6:c.485+31G>A	ENSP00000384957.2:n.485+31G>A
ENST00000492972.6:c.*27G>A	ENSP00000424479.1:n.*27G>A
ENST00000514715.1:n.388G>A
NM_000128.3:c.485+31G>A , LRG_583t1:c.485+31G>A	NP_000119.1:n.485+31G>A
XM_005262821.2:c.485+31G>A	XP_005262878.1:n.485+31G>A
XM_005262822.2:c.485+31G>A	XP_005262879.1:n.485+31G>A
XM_005262823.2:c.485+31G>A	XP_005262880.1:n.485+31G>A
XM_005262824.1:c.485+31G>A	XP_005262881.1:n.485+31G>A
XM_006714137.1:c.485+31G>A	XP_006714200.1:n.485+31G>A
XR_938706.1:n.837+31G>A
XR_938707.1:n.837+31G>A
NM_001354804.1:c.*27G>A	NP_001341733.1:n.*27G>A
XM_005262821.4:c.485+31G>A	XP_005262878.1:n.485+31G>A
XM_005262822.4:c.485+31G>A	XP_005262879.1:n.485+31G>A
XM_005262823.4:c.485+31G>A	XP_005262880.1:n.485+31G>A
XM_006714137.3:c.485+31G>A	XP_006714200.1:n.485+31G>A
XM_017007884.2:c.485+31G>A	XP_016863373.1:n.485+31G>A
XM_017007885.2:c.485+31G>A	XP_016863374.1:n.485+31G>A
XM_017007886.2:c.485+31G>A	XP_016863375.1:n.485+31G>A
XR_001741172.2:n.818+31G>A
NM_000128.4:c.485+31G>A MANE Select	NP_000119.1:n.485+31G>A
NM_001354804.2:c.*27G>A	NP_001341733.1:n.*27G>A